Name: rs594445
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs594445

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:36251226 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.274681 (98605/358980, ALFA)
A=0.230477 (61005/264690, TOPMED)
A=0.275797 (69332/251388, GnomAD_exome) (+ 28 more)
A=0.228739 (32028/140020, GnomAD)
A=0.269442 (32686/121310, ExAC)
A=0.19988 (15731/78702, PAGE_STUDY)
A=0.27168 (7677/28258, 14KJPN)
A=0.26695 (4474/16760, 8.3KJPN)
A=0.21890 (2847/13006, GO-ESP)
A=0.2208 (1414/6404, 1000G_30x)
A=0.2228 (1116/5008, 1000G)
A=0.3071 (1376/4480, Estonian)
A=0.2927 (1128/3854, ALSPAC)
A=0.2837 (1052/3708, TWINSUK)
A=0.2990 (876/2930, KOREAN)
A=0.2625 (547/2084, HGDP_Stanford)
A=0.2029 (383/1888, HapMap)
A=0.2926 (536/1832, Korea1K)
A=0.2612 (292/1118, Daghestan)
A=0.286 (285/998, GoNL)
A=0.290 (227/784, PRJEB37584)
A=0.307 (192/626, Chileans)
A=0.173 (106/613, Vietnamese)
A=0.265 (159/600, NorthernSweden)
A=0.275 (147/534, MGP)
A=0.322 (98/304, FINRISK)
C=0.433 (103/238, SGDP_PRJ)
A=0.292 (63/216, Qatari)
A=0.47 (28/60, Ancient Sardinia)
A=0.17 (7/40, GENOME_DK)
C=0.44 (16/36, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: MOCOS : Missense Variant
Publications: 3 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	374656	C=0.728049	A=0.271951, T=0.000000
European	Sub	311072	C=0.717821	A=0.282179, T=0.000000
African	Sub	16716	C=0.92235	A=0.07765, T=0.00000
African Others	Sub	602	C=0.962	A=0.038, T=0.000
African American	Sub	16114	C=0.92088	A=0.07912, T=0.00000
Asian	Sub	6928	C=0.7539	A=0.2461, T=0.0000
East Asian	Sub	4934	C=0.7390	A=0.2610, T=0.0000
Other Asian	Sub	1994	C=0.7909	A=0.2091, T=0.0000
Latin American 1	Sub	1568	C=0.7857	A=0.2143, T=0.0000
Latin American 2	Sub	9054	C=0.6817	A=0.3183, T=0.0000
South Asian	Sub	5188	C=0.7352	A=0.2648, T=0.0000
Other	Sub	24130	C=0.73000	A=0.27000, T=0.00000

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	358980	C=0.725319	A=0.274681, T=0.000000
Allele Frequency Aggregator	European	Sub	301536	C=0.717430	A=0.282570, T=0.000000
Allele Frequency Aggregator	Other	Sub	22762	C=0.72854	A=0.27146, T=0.00000
Allele Frequency Aggregator	African	Sub	11944	C=0.92264	A=0.07736, T=0.00000
Allele Frequency Aggregator	Latin American 2	Sub	9054	C=0.6817	A=0.3183, T=0.0000
Allele Frequency Aggregator	Asian	Sub	6928	C=0.7539	A=0.2461, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5188	C=0.7352	A=0.2648, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1568	C=0.7857	A=0.2143, T=0.0000
TopMed	Global	Study-wide	264690	C=0.769523	A=0.230477
gnomAD - Exomes	Global	Study-wide	251388	C=0.724203	A=0.275797
gnomAD - Exomes	European	Sub	135336	C=0.712988	A=0.287012
gnomAD - Exomes	Asian	Sub	49002	C=0.74148	A=0.25852
gnomAD - Exomes	American	Sub	34586	C=0.66698	A=0.33302
gnomAD - Exomes	African	Sub	16252	C=0.91829	A=0.08171
gnomAD - Exomes	Ashkenazi Jewish	Sub	10078	C=0.68863	A=0.31137
gnomAD - Exomes	Other	Sub	6134	C=0.7005	A=0.2995
gnomAD - Genomes	Global	Study-wide	140020	C=0.771261	A=0.228739
gnomAD - Genomes	European	Sub	75798	C=0.71413	A=0.28587
gnomAD - Genomes	African	Sub	42000	C=0.91188	A=0.08812
gnomAD - Genomes	American	Sub	13626	C=0.67863	A=0.32137
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.7152	A=0.2848
gnomAD - Genomes	East Asian	Sub	3122	C=0.7534	A=0.2466
gnomAD - Genomes	Other	Sub	2152	C=0.7379	A=0.2621
ExAC	Global	Study-wide	121310	C=0.730558	A=0.269442
ExAC	Europe	Sub	73304	C=0.71212	A=0.28788
ExAC	Asian	Sub	25148	C=0.73926	A=0.26074
ExAC	American	Sub	11566	C=0.66376	A=0.33624
ExAC	African	Sub	10384	C=0.91516	A=0.08484
ExAC	Other	Sub	908	C=0.718	A=0.282
The PAGE Study	Global	Study-wide	78702	C=0.80012	A=0.19988
The PAGE Study	AfricanAmerican	Sub	32516	C=0.90214	A=0.09786
The PAGE Study	Mexican	Sub	10810	C=0.66290	A=0.33710
The PAGE Study	Asian	Sub	8318	C=0.7515	A=0.2485
The PAGE Study	PuertoRican	Sub	7918	C=0.7196	A=0.2804
The PAGE Study	NativeHawaiian	Sub	4534	C=0.8516	A=0.1484
The PAGE Study	Cuban	Sub	4230	C=0.7255	A=0.2745
The PAGE Study	Dominican	Sub	3828	C=0.8054	A=0.1946
The PAGE Study	CentralAmerican	Sub	2450	C=0.6751	A=0.3249
The PAGE Study	SouthAmerican	Sub	1982	C=0.6751	A=0.3249
The PAGE Study	NativeAmerican	Sub	1260	C=0.7087	A=0.2913
The PAGE Study	SouthAsian	Sub	856	C=0.729	A=0.271
14KJPN	JAPANESE	Study-wide	28258	C=0.72832	A=0.27168
8.3KJPN	JAPANESE	Study-wide	16760	C=0.73305	A=0.26695
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.78110	A=0.21890
GO Exome Sequencing Project	European American	Sub	8600	C=0.7160	A=0.2840
GO Exome Sequencing Project	African American	Sub	4406	C=0.9081	A=0.0919
1000Genomes_30x	Global	Study-wide	6404	C=0.7792	A=0.2208
1000Genomes_30x	African	Sub	1786	C=0.9558	A=0.0442
1000Genomes_30x	Europe	Sub	1266	C=0.7148	A=0.2852
1000Genomes_30x	South Asian	Sub	1202	C=0.7205	A=0.2795
1000Genomes_30x	East Asian	Sub	1170	C=0.7521	A=0.2479
1000Genomes_30x	American	Sub	980	C=0.645	A=0.355
1000Genomes	Global	Study-wide	5008	C=0.7772	A=0.2228
1000Genomes	African	Sub	1322	C=0.9523	A=0.0477
1000Genomes	East Asian	Sub	1008	C=0.7560	A=0.2440
1000Genomes	Europe	Sub	1006	C=0.7068	A=0.2932
1000Genomes	South Asian	Sub	978	C=0.724	A=0.276
1000Genomes	American	Sub	694	C=0.651	A=0.349
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6929	A=0.3071
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7073	A=0.2927
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7163	A=0.2837
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7010	A=0.2990
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.7375	A=0.2625
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.721	A=0.279
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.734	A=0.266
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.697	A=0.303
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.675	A=0.325
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.926	A=0.074
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.681	A=0.319
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.88	A=0.12
HapMap	Global	Study-wide	1888	C=0.7971	A=0.2029
HapMap	American	Sub	766	C=0.749	A=0.251
HapMap	African	Sub	692	C=0.884	A=0.116
HapMap	Asian	Sub	254	C=0.748	A=0.252
HapMap	Europe	Sub	176	C=0.733	A=0.267
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7074	A=0.2926
Genome-wide autozygosity in Daghestan	Global	Study-wide	1118	C=0.7388	A=0.2612
Genome-wide autozygosity in Daghestan	Daghestan	Sub	616	C=0.739	A=0.261
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	C=0.761	A=0.239
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	C=0.700	A=0.300
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.750	A=0.250
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	C=0.72	A=0.28
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.81	A=0.19
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.714	A=0.286
CNV burdens in cranial meningiomas	Global	Study-wide	784	C=0.710	A=0.290
CNV burdens in cranial meningiomas	CRM	Sub	784	C=0.710	A=0.290
Chileans	Chilean	Study-wide	626	C=0.693	A=0.307
A Vietnamese Genetic Variation Database	Global	Study-wide	613	C=0.827	A=0.173
Northern Sweden	ACPOP	Study-wide	600	C=0.735	A=0.265
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.725	A=0.275
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.678	A=0.322
SGDP_PRJ	Global	Study-wide	238	C=0.433	A=0.567
Qatari	Global	Study-wide	216	C=0.708	A=0.292
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	60	C=0.53	A=0.47
The Danish reference pan genome	Danish	Study-wide	40	C=0.82	A=0.17
Siberian	Global	Study-wide	36	C=0.44	A=0.56

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 18	NC_000018.10:g.36251226C>A
GRCh38.p14 chr 18	NC_000018.10:g.36251226C>T
GRCh37.p13 chr 18	NC_000018.9:g.33831189C>A
GRCh37.p13 chr 18	NC_000018.9:g.33831189C>T
MOCOS RefSeqGene	NG_053177.2:g.68731C>A
MOCOS RefSeqGene	NG_053177.2:g.68731C>T
MOCOS RefSeqGene	NG_053177.1:g.69017C>A
MOCOS RefSeqGene	NG_053177.1:g.69017C>T

Gene: MOCOS, molybdenum cofactor sulfurase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MOCOS transcript	NM_017947.4:c.2107C>A	H [CAT] > N [AAT]	Coding Sequence Variant
molybdenum cofactor sulfurase	NP_060417.4:p.His703Asn	H (His) > N (Asn)	Missense Variant
MOCOS transcript	NM_017947.4:c.2107C>T	H [CAT] > Y [TAT]	Coding Sequence Variant
molybdenum cofactor sulfurase	NP_060417.4:p.His703Tyr	H (His) > Y (Tyr)	Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 1158290 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001517620.4	Xanthinuria type II	Benign
RCV001539208.2	not provided	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	C=	A	T
GRCh38.p14 chr 18	NC_000018.10:g.36251226=	NC_000018.10:g.36251226C>A	NC_000018.10:g.36251226C>T
GRCh37.p13 chr 18	NC_000018.9:g.33831189=	NC_000018.9:g.33831189C>A	NC_000018.9:g.33831189C>T
MOCOS RefSeqGene	NG_053177.2:g.68731=	NG_053177.2:g.68731C>A	NG_053177.2:g.68731C>T
MOCOS RefSeqGene	NG_053177.1:g.69017=	NG_053177.1:g.69017C>A	NG_053177.1:g.69017C>T
MOCOS transcript	NM_017947.4:c.2107=	NM_017947.4:c.2107C>A	NM_017947.4:c.2107C>T
MOCOS transcript	NM_017947.3:c.2107=	NM_017947.3:c.2107C>A	NM_017947.3:c.2107C>T
MOCOS transcript	NM_017947.2:c.2107=	NM_017947.2:c.2107C>A	NM_017947.2:c.2107C>T
molybdenum cofactor sulfurase	NP_060417.4:p.His703=	NP_060417.4:p.His703Asn	NP_060417.4:p.His703Tyr
molybdenum cofactor sulfurase	NP_060417.2:p.His703=	NP_060417.2:p.His703Asn	NP_060417.2:p.His703Tyr

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

172 SubSNP, 31 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss766287	Aug 11, 2000 (83)
2	YUSUKE	ss4923371	Aug 28, 2002 (108)
3	PERLEGEN	ss24508367	Sep 20, 2004 (123)
4	ABI	ss44100465	Mar 13, 2006 (126)
5	APPLERA_GI	ss48420384	Mar 13, 2006 (126)
6	AFFY	ss66192720	Dec 01, 2006 (127)
7	ILLUMINA	ss66686471	Dec 01, 2006 (127)
8	ILLUMINA	ss67428153	Dec 01, 2006 (127)
9	ILLUMINA	ss67785847	Dec 01, 2006 (127)
10	PERLEGEN	ss69211372	May 17, 2007 (127)
11	ILLUMINA	ss70850991	May 24, 2008 (130)
12	ILLUMINA	ss71436283	May 17, 2007 (127)
13	ILLUMINA	ss75585089	Dec 06, 2007 (129)
14	AFFY	ss76270660	Dec 08, 2007 (130)
15	ILLUMINA	ss79212263	Dec 14, 2007 (130)
16	KRIBB_YJKIM	ss83492716	Dec 14, 2007 (130)
17	BCMHGSC_JDW	ss90761410	Mar 24, 2008 (129)
18	HUMANGENOME_JCVI	ss96503888	Feb 04, 2009 (130)
19	BGI	ss103387323	Dec 01, 2009 (131)
20	1000GENOMES	ss110364619	Jan 24, 2009 (130)
21	ILLUMINA	ss122489241	Dec 01, 2009 (131)
22	ENSEMBL	ss137334319	Dec 01, 2009 (131)
23	ENSEMBL	ss139455117	Dec 01, 2009 (131)
24	ILLUMINA	ss154345313	Dec 01, 2009 (131)
25	GMI	ss155036091	Dec 01, 2009 (131)
26	ILLUMINA	ss159521727	Dec 01, 2009 (131)
27	SEATTLESEQ	ss159737218	Dec 01, 2009 (131)
28	ILLUMINA	ss160751866	Dec 01, 2009 (131)
29	COMPLETE_GENOMICS	ss171690072	Jul 04, 2010 (132)
30	ILLUMINA	ss172064685	Jul 04, 2010 (132)
31	AFFY	ss173054780	Jul 04, 2010 (132)
32	ILLUMINA	ss173945931	Jul 04, 2010 (132)
33	BUSHMAN	ss203151533	Jul 04, 2010 (132)
34	1000GENOMES	ss237433074	Jul 15, 2010 (132)
35	1000GENOMES	ss243690056	Jul 15, 2010 (132)
36	BL	ss255588383	May 09, 2011 (134)
37	GMI	ss282959909	May 04, 2012 (137)
38	PJP	ss292155277	May 09, 2011 (134)
39	NHLBI-ESP	ss342473845	May 09, 2011 (134)
40	ILLUMINA	ss481175615	May 04, 2012 (137)
41	ILLUMINA	ss481198354	May 04, 2012 (137)
42	ILLUMINA	ss482185460	Sep 08, 2015 (146)
43	ILLUMINA	ss485383039	May 04, 2012 (137)
44	1000GENOMES	ss491139162	May 04, 2012 (137)
45	EXOME_CHIP	ss491532814	May 04, 2012 (137)
46	CLINSEQ_SNP	ss491749602	May 04, 2012 (137)
47	ILLUMINA	ss537322524	Sep 08, 2015 (146)
48	TISHKOFF	ss565591615	Apr 25, 2013 (138)
49	SSMP	ss661419711	Apr 25, 2013 (138)
50	ILLUMINA	ss778560998	Sep 08, 2015 (146)
51	ILLUMINA	ss780736196	Sep 08, 2015 (146)
52	ILLUMINA	ss783137071	Sep 08, 2015 (146)
53	ILLUMINA	ss783413001	Sep 08, 2015 (146)
54	ILLUMINA	ss784093420	Sep 08, 2015 (146)
55	ILLUMINA	ss825542781	Apr 01, 2015 (144)
56	ILLUMINA	ss832396087	Sep 08, 2015 (146)
57	ILLUMINA	ss833033007	Jul 13, 2019 (153)
58	ILLUMINA	ss834017894	Sep 08, 2015 (146)
59	EVA-GONL	ss993640668	Aug 21, 2014 (142)
60	JMKIDD_LAB	ss1067578785	Aug 21, 2014 (142)
61	JMKIDD_LAB	ss1081435392	Aug 21, 2014 (142)
62	1000GENOMES	ss1360697643	Aug 21, 2014 (142)
63	HAMMER_LAB	ss1397743352	Sep 08, 2015 (146)
64	DDI	ss1428191658	Apr 01, 2015 (144)
65	EVA_GENOME_DK	ss1578368419	Apr 01, 2015 (144)
66	EVA_FINRISK	ss1584110853	Apr 01, 2015 (144)
67	EVA_UK10K_ALSPAC	ss1636694804	Apr 01, 2015 (144)
68	EVA_UK10K_TWINSUK	ss1679688837	Apr 01, 2015 (144)
69	EVA_EXAC	ss1693130771	Apr 01, 2015 (144)
70	EVA_DECODE	ss1697695419	Apr 01, 2015 (144)
71	EVA_MGP	ss1711484762	Apr 01, 2015 (144)
72	EVA_SVP	ss1713619584	Apr 01, 2015 (144)
73	ILLUMINA	ss1752253833	Sep 08, 2015 (146)
74	ILLUMINA	ss1752253834	Sep 08, 2015 (146)
75	HAMMER_LAB	ss1809015285	Sep 08, 2015 (146)
76	ILLUMINA	ss1917926933	Feb 12, 2016 (147)
77	WEILL_CORNELL_DGM	ss1937113951	Feb 12, 2016 (147)
78	ILLUMINA	ss1946497984	Feb 12, 2016 (147)
79	ILLUMINA	ss1959799029	Feb 12, 2016 (147)
80	GENOMED	ss1968503503	Jul 19, 2016 (147)
81	JJLAB	ss2029325350	Sep 14, 2016 (149)
82	USC_VALOUEV	ss2157829047	Dec 20, 2016 (150)
83	HUMAN_LONGEVITY	ss2220881203	Dec 20, 2016 (150)
84	SYSTEMSBIOZJU	ss2629161059	Nov 08, 2017 (151)
85	ILLUMINA	ss2633463094	Nov 08, 2017 (151)
86	GRF	ss2702414041	Nov 08, 2017 (151)
87	GNOMAD	ss2743265697	Nov 08, 2017 (151)
88	GNOMAD	ss2749948477	Nov 08, 2017 (151)
89	GNOMAD	ss2955762568	Nov 08, 2017 (151)
90	AFFY	ss2985116159	Nov 08, 2017 (151)
91	SWEGEN	ss3016398016	Nov 08, 2017 (151)
92	ILLUMINA	ss3021836984	Nov 08, 2017 (151)
93	EVA_SAMSUNG_MC	ss3023071213	Nov 08, 2017 (151)
94	BIOINF_KMB_FNS_UNIBA	ss3028489286	Nov 08, 2017 (151)
95	CSHL	ss3351986536	Nov 08, 2017 (151)
96	ILLUMINA	ss3627790938	Oct 12, 2018 (152)
97	ILLUMINA	ss3627790939	Oct 12, 2018 (152)
98	ILLUMINA	ss3631440173	Oct 12, 2018 (152)
99	ILLUMINA	ss3633159706	Oct 12, 2018 (152)
100	ILLUMINA	ss3633868389	Oct 12, 2018 (152)
101	ILLUMINA	ss3634702760	Oct 12, 2018 (152)
102	ILLUMINA	ss3634702761	Oct 12, 2018 (152)
103	ILLUMINA	ss3635555733	Oct 12, 2018 (152)
104	ILLUMINA	ss3636391734	Oct 12, 2018 (152)
105	ILLUMINA	ss3637307336	Oct 12, 2018 (152)
106	ILLUMINA	ss3638191614	Oct 12, 2018 (152)
107	ILLUMINA	ss3639103699	Oct 12, 2018 (152)
108	ILLUMINA	ss3639560126	Oct 12, 2018 (152)
109	ILLUMINA	ss3640410068	Oct 12, 2018 (152)
110	ILLUMINA	ss3640410069	Oct 12, 2018 (152)
111	ILLUMINA	ss3643167717	Oct 12, 2018 (152)
112	ILLUMINA	ss3644704364	Oct 12, 2018 (152)
113	OMUKHERJEE_ADBS	ss3646522915	Oct 12, 2018 (152)
114	URBANLAB	ss3650774792	Oct 12, 2018 (152)
115	ILLUMINA	ss3652258024	Oct 12, 2018 (152)
116	ILLUMINA	ss3653888363	Oct 12, 2018 (152)
117	EGCUT_WGS	ss3683230488	Jul 13, 2019 (153)
118	EVA_DECODE	ss3701500637	Jul 13, 2019 (153)
119	ILLUMINA	ss3725670884	Jul 13, 2019 (153)
120	ACPOP	ss3742473945	Jul 13, 2019 (153)
121	ILLUMINA	ss3744453659	Jul 13, 2019 (153)
122	ILLUMINA	ss3745002918	Jul 13, 2019 (153)
123	ILLUMINA	ss3745002919	Jul 13, 2019 (153)
124	EVA	ss3755286860	Jul 13, 2019 (153)
125	PAGE_CC	ss3771967529	Jul 13, 2019 (153)
126	ILLUMINA	ss3772500432	Jul 13, 2019 (153)
127	ILLUMINA	ss3772500433	Jul 13, 2019 (153)
128	PACBIO	ss3788349710	Jul 13, 2019 (153)
129	PACBIO	ss3793283962	Jul 13, 2019 (153)
130	PACBIO	ss3798170291	Jul 13, 2019 (153)
131	KHV_HUMAN_GENOMES	ss3820554805	Jul 13, 2019 (153)
132	EVA	ss3825188641	Apr 27, 2020 (154)
133	EVA	ss3825532002	Apr 27, 2020 (154)
134	EVA	ss3825546626	Apr 27, 2020 (154)
135	EVA	ss3825915076	Apr 27, 2020 (154)
136	EVA	ss3835129455	Apr 27, 2020 (154)
137	EVA	ss3841180987	Apr 27, 2020 (154)
138	EVA	ss3846682736	Apr 27, 2020 (154)
139	HGDP	ss3847580413	Apr 27, 2020 (154)
140	SGDP_PRJ	ss3886853878	Apr 27, 2020 (154)
141	KRGDB	ss3936707518	Apr 27, 2020 (154)
142	KOGIC	ss3979998665	Apr 27, 2020 (154)
143	FSA-LAB	ss3984132091	Apr 25, 2021 (155)
144	EVA	ss3984731654	Apr 25, 2021 (155)
145	EVA	ss3985820550	Apr 25, 2021 (155)
146	EVA	ss3986077411	Apr 25, 2021 (155)
147	EVA	ss3986756943	Apr 25, 2021 (155)
148	TOPMED	ss5053765082	Apr 25, 2021 (155)
149	TOMMO_GENOMICS	ss5224811242	Apr 25, 2021 (155)
150	EVA	ss5236950340	Apr 25, 2021 (155)
151	EVA	ss5237670645	Oct 16, 2022 (156)
152	1000G_HIGH_COVERAGE	ss5305014135	Oct 16, 2022 (156)
153	TRAN_CS_UWATERLOO	ss5314450494	Oct 16, 2022 (156)
154	EVA	ss5315927242	Oct 16, 2022 (156)
155	EVA	ss5430892418	Oct 16, 2022 (156)
156	HUGCELL_USP	ss5497812075	Oct 16, 2022 (156)
157	1000G_HIGH_COVERAGE	ss5609696010	Oct 16, 2022 (156)
158	EVA	ss5623974106	Oct 16, 2022 (156)
159	EVA	ss5624080048	Oct 16, 2022 (156)
160	SANFORD_IMAGENETICS	ss5661137506	Oct 16, 2022 (156)
161	TOMMO_GENOMICS	ss5782499694	Oct 16, 2022 (156)
162	EVA	ss5799991041	Oct 16, 2022 (156)
163	EVA	ss5800072054	Oct 16, 2022 (156)
164	EVA	ss5800214675	Oct 16, 2022 (156)
165	YY_MCH	ss5817028137	Oct 16, 2022 (156)
166	EVA	ss5827433044	Oct 16, 2022 (156)
167	EVA	ss5847819267	Oct 16, 2022 (156)
168	EVA	ss5848467728	Oct 16, 2022 (156)
169	EVA	ss5852019173	Oct 16, 2022 (156)
170	EVA	ss5873752241	Oct 16, 2022 (156)
171	EVA	ss5952540478	Oct 16, 2022 (156)
172	EVA	ss5981306100	Oct 16, 2022 (156)
173	1000Genomes	NC_000018.9 - 33831189	Oct 12, 2018 (152)
174	1000Genomes_30x	NC_000018.10 - 36251226	Oct 16, 2022 (156)
175	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 33831189	Oct 12, 2018 (152)
176	Chileans	NC_000018.9 - 33831189	Apr 27, 2020 (154)
177	Genome-wide autozygosity in Daghestan	NC_000018.8 - 32085187	Apr 27, 2020 (154)
178	Genetic variation in the Estonian population	NC_000018.9 - 33831189	Oct 12, 2018 (152)
179	ExAC	NC_000018.9 - 33831189	Oct 12, 2018 (152)
180	FINRISK	NC_000018.9 - 33831189	Apr 27, 2020 (154)
181	The Danish reference pan genome	NC_000018.9 - 33831189	Apr 27, 2020 (154)
182	gnomAD - Genomes	NC_000018.10 - 36251226	Apr 25, 2021 (155)
183	gnomAD - Exomes	NC_000018.9 - 33831189	Jul 13, 2019 (153)
184	GO Exome Sequencing Project	NC_000018.9 - 33831189	Oct 12, 2018 (152)
185	Genome of the Netherlands Release 5	NC_000018.9 - 33831189	Apr 27, 2020 (154)
186	HGDP-CEPH-db Supplement 1	NC_000018.8 - 32085187	Apr 27, 2020 (154)
187	HapMap	NC_000018.10 - 36251226	Apr 27, 2020 (154)
188	KOREAN population from KRGDB	NC_000018.9 - 33831189	Apr 27, 2020 (154)
189	Korean Genome Project	NC_000018.10 - 36251226	Apr 27, 2020 (154)
190	Medical Genome Project healthy controls from Spanish population	NC_000018.9 - 33831189	Apr 27, 2020 (154)
191	Northern Sweden	NC_000018.9 - 33831189	Jul 13, 2019 (153)
192	The PAGE Study	NC_000018.10 - 36251226	Jul 13, 2019 (153)
193	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000018.9 - 33831189	Apr 25, 2021 (155)
194	CNV burdens in cranial meningiomas	NC_000018.9 - 33831189	Apr 25, 2021 (155)
195	Qatari	NC_000018.9 - 33831189	Apr 27, 2020 (154)
196	SGDP_PRJ	NC_000018.9 - 33831189	Apr 27, 2020 (154)
197	Siberian	NC_000018.9 - 33831189	Apr 27, 2020 (154)
198	8.3KJPN	NC_000018.9 - 33831189	Apr 25, 2021 (155)
199	14KJPN	NC_000018.10 - 36251226	Oct 16, 2022 (156)
200	TopMed	NC_000018.10 - 36251226	Apr 25, 2021 (155)
201	UK 10K study - Twins	NC_000018.9 - 33831189	Oct 12, 2018 (152)
202	A Vietnamese Genetic Variation Database	NC_000018.9 - 33831189	Jul 13, 2019 (153)
203	ALFA	NC_000018.10 - 36251226	Apr 25, 2021 (155)
204	ClinVar	RCV001517620.4	Oct 16, 2022 (156)
205	ClinVar	RCV001539208.2	Oct 16, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs3737372	Oct 08, 2002 (108)
rs17790830	Oct 08, 2004 (123)
rs56434535	May 24, 2008 (130)
rs57829177	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
213073, 258305, ss90761410, ss110364619, ss171690072, ss203151533, ss255588383, ss282959909, ss292155277, ss481175615, ss491749602, ss825542781, ss1397743352, ss1697695419, ss1713619584, ss3639103699, ss3639560126, ss3643167717, ss3847580413	NC_000018.8:32085186:C:A	NC_000018.10:36251225:C:A	(self)
74016081, 41001523, 192892, 28968736, 3601163, 107314, 4561883, 12577688, 1645658, 18269870, 43884912, 600522, 15758810, 1046477, 281206, 19155873, 38870858, 10345401, 82780549, 41001523, 9061370, ss237433074, ss243690056, ss342473845, ss481198354, ss482185460, ss485383039, ss491139162, ss491532814, ss537322524, ss565591615, ss661419711, ss778560998, ss780736196, ss783137071, ss783413001, ss784093420, ss832396087, ss833033007, ss834017894, ss993640668, ss1067578785, ss1081435392, ss1360697643, ss1428191658, ss1578368419, ss1584110853, ss1636694804, ss1679688837, ss1693130771, ss1711484762, ss1752253833, ss1752253834, ss1809015285, ss1917926933, ss1937113951, ss1946497984, ss1959799029, ss1968503503, ss2029325350, ss2157829047, ss2629161059, ss2633463094, ss2702414041, ss2743265697, ss2749948477, ss2955762568, ss2985116159, ss3016398016, ss3021836984, ss3023071213, ss3351986536, ss3627790938, ss3627790939, ss3631440173, ss3633159706, ss3633868389, ss3634702760, ss3634702761, ss3635555733, ss3636391734, ss3637307336, ss3638191614, ss3640410068, ss3640410069, ss3644704364, ss3646522915, ss3652258024, ss3653888363, ss3683230488, ss3742473945, ss3744453659, ss3745002918, ss3745002919, ss3755286860, ss3772500432, ss3772500433, ss3788349710, ss3793283962, ss3798170291, ss3825188641, ss3825532002, ss3825546626, ss3825915076, ss3835129455, ss3841180987, ss3886853878, ss3936707518, ss3984132091, ss3984731654, ss3985820550, ss3986077411, ss3986756943, ss5224811242, ss5315927242, ss5430892418, ss5623974106, ss5624080048, ss5661137506, ss5799991041, ss5800072054, ss5800214675, ss5827433044, ss5847819267, ss5848467728, ss5952540478, ss5981306100	NC_000018.9:33831188:C:A	NC_000018.10:36251225:C:A	(self)
RCV001517620.4, RCV001539208.2, 97221945, 522160890, 1583991, 36376666, 1188998, 116336798, 269310745, 3818168676, ss2220881203, ss3028489286, ss3650774792, ss3701500637, ss3725670884, ss3771967529, ss3820554805, ss3846682736, ss3979998665, ss5053765082, ss5236950340, ss5237670645, ss5305014135, ss5314450494, ss5497812075, ss5609696010, ss5782499694, ss5817028137, ss5852019173, ss5873752241	NC_000018.10:36251225:C:A	NC_000018.10:36251225:C:A	(self)
ss766287, ss4923371, ss24508367, ss44100465, ss48420384, ss66192720, ss66686471, ss67428153, ss67785847, ss69211372, ss70850991, ss71436283, ss75585089, ss76270660, ss79212263, ss83492716, ss96503888, ss103387323, ss122489241, ss137334319, ss139455117, ss154345313, ss155036091, ss159521727, ss159737218, ss160751866, ss172064685, ss173054780, ss173945931	NT_010966.14:15320290:C:A	NC_000018.10:36251225:C:A	(self)
3818168676	NC_000018.10:36251225:C:T	NC_000018.10:36251225:C:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

3 citations for rs594445

PMID	Title	Author	Year	Journal
22495427	Polymorphism of genes involved in purine metabolism (XDH, AOX1, MOCOS) in kidney transplant recipients receiving azathioprine.	Kurzawski M et al.	2012	Therapeutic drug monitoring
31900757	The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder.	Taheri M et al.	2020	Metabolic brain disease
33195404	A Single Nucleotide Polymorphism Within Molybdenum Cofactor Sulfurase Gene Is Associated With Neuropsychiatric Conditions.	Safa A et al.	2020	Frontiers in molecular biosciences

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs594445