Name: rs4130047
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.

rs4130047

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:43098270 (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: T>A / T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.314676 (104784/332990, ALFA)
C=0.320677 (84880/264690, TOPMED)
C=0.32953 (25933/78698, PAGE_STUDY) (+ 20 more)
C=0.36372 (10278/28258, 14KJPN)
C=0.36169 (6062/16760, 8.3KJPN)
C=0.3214 (2058/6404, 1000G_30x)
C=0.3237 (1621/5008, 1000G)
C=0.3679 (1648/4480, Estonian)
C=0.3210 (1237/3854, ALSPAC)
C=0.3220 (1194/3708, TWINSUK)
C=0.4106 (1203/2930, KOREAN)
C=0.3661 (763/2084, HGDP_Stanford)
C=0.3312 (626/1890, HapMap)
C=0.4159 (762/1832, Korea1K)
C=0.3055 (347/1136, Daghestan)
C=0.339 (338/998, GoNL)
C=0.328 (197/600, NorthernSweden)
T=0.359 (122/340, SGDP_PRJ)
C=0.227 (49/216, Qatari)
C=0.397 (85/214, Vietnamese)
C=0.24 (12/50, Ancient Sardinia)
C=0.42 (17/40, GENOME_DK)
T=0.28 (10/36, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RIT2 : Intron 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	338238	T=0.685452	A=0.000000, C=0.314548
European	Sub	294184	T=0.687896	A=0.000000, C=0.312104
African	Sub	7746	T=0.7697	A=0.0000, C=0.2303
African Others	Sub	328	T=0.790	A=0.000, C=0.210
African American	Sub	7418	T=0.7688	A=0.0000, C=0.2312
Asian	Sub	6844	T=0.5925	A=0.0000, C=0.4075
East Asian	Sub	4918	T=0.5978	A=0.0000, C=0.4022
Other Asian	Sub	1926	T=0.5789	A=0.0000, C=0.4211
Latin American 1	Sub	1048	T=0.7252	A=0.0000, C=0.2748
Latin American 2	Sub	6756	T=0.6314	A=0.0000, C=0.3686
South Asian	Sub	5184	T=0.6852	A=0.0000, C=0.3148
Other	Sub	16476	T=0.66054	A=0.00000, C=0.33946

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	332990	T=0.685324	A=0.000000, C=0.314676
Allele Frequency Aggregator	European	Sub	290912	T=0.687864	A=0.000000, C=0.312136
Allele Frequency Aggregator	Other	Sub	15654	T=0.65970	A=0.00000, C=0.34030
Allele Frequency Aggregator	Asian	Sub	6844	T=0.5925	A=0.0000, C=0.4075
Allele Frequency Aggregator	Latin American 2	Sub	6756	T=0.6314	A=0.0000, C=0.3686
Allele Frequency Aggregator	African	Sub	6592	T=0.7794	A=0.0000, C=0.2206
Allele Frequency Aggregator	South Asian	Sub	5184	T=0.6852	A=0.0000, C=0.3148
Allele Frequency Aggregator	Latin American 1	Sub	1048	T=0.7252	A=0.0000, C=0.2748
TopMed	Global	Study-wide	264690	T=0.679323	C=0.320677
The PAGE Study	Global	Study-wide	78698	T=0.67047	C=0.32953
The PAGE Study	AfricanAmerican	Sub	32516	T=0.71528	C=0.28472
The PAGE Study	Mexican	Sub	10810	T=0.62942	C=0.37058
The PAGE Study	Asian	Sub	8314	T=0.6396	C=0.3604
The PAGE Study	PuertoRican	Sub	7918	T=0.6558	C=0.3442
The PAGE Study	NativeHawaiian	Sub	4534	T=0.5646	C=0.4354
The PAGE Study	Cuban	Sub	4230	T=0.6957	C=0.3043
The PAGE Study	Dominican	Sub	3828	T=0.6724	C=0.3276
The PAGE Study	CentralAmerican	Sub	2450	T=0.6016	C=0.3984
The PAGE Study	SouthAmerican	Sub	1982	T=0.6352	C=0.3648
The PAGE Study	NativeAmerican	Sub	1260	T=0.6357	C=0.3643
The PAGE Study	SouthAsian	Sub	856	T=0.679	C=0.321
14KJPN	JAPANESE	Study-wide	28258	T=0.63628	C=0.36372
8.3KJPN	JAPANESE	Study-wide	16760	T=0.63831	C=0.36169
1000Genomes_30x	Global	Study-wide	6404	T=0.6786	C=0.3214
1000Genomes_30x	African	Sub	1786	T=0.7066	C=0.2934
1000Genomes_30x	Europe	Sub	1266	T=0.6611	C=0.3389
1000Genomes_30x	South Asian	Sub	1202	T=0.7047	C=0.2953
1000Genomes_30x	East Asian	Sub	1170	T=0.6487	C=0.3513
1000Genomes_30x	American	Sub	980	T=0.654	C=0.346
1000Genomes	Global	Study-wide	5008	T=0.6763	C=0.3237
1000Genomes	African	Sub	1322	T=0.7042	C=0.2958
1000Genomes	East Asian	Sub	1008	T=0.6438	C=0.3562
1000Genomes	Europe	Sub	1006	T=0.6620	C=0.3380
1000Genomes	South Asian	Sub	978	T=0.706	C=0.294
1000Genomes	American	Sub	694	T=0.650	C=0.350
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6321	C=0.3679
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6790	C=0.3210
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6780	C=0.3220
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.5894	C=0.4106
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.6339	C=0.3661
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.577	C=0.423
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.664	C=0.336
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.703	C=0.297
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.706	C=0.294
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.661	C=0.339
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.532	C=0.468
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.39	C=0.61
HapMap	Global	Study-wide	1890	T=0.6688	C=0.3312
HapMap	American	Sub	768	T=0.656	C=0.344
HapMap	African	Sub	692	T=0.689	C=0.311
HapMap	Asian	Sub	254	T=0.646	C=0.354
HapMap	Europe	Sub	176	T=0.676	C=0.324
Korean Genome Project	KOREAN	Study-wide	1832	T=0.5841	C=0.4159
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.6945	C=0.3055
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.694	C=0.306
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.701	C=0.299
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.623	C=0.377
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.694	C=0.306
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.72	C=0.28
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.83	C=0.17
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.661	C=0.339
Northern Sweden	ACPOP	Study-wide	600	T=0.672	C=0.328
SGDP_PRJ	Global	Study-wide	340	T=0.359	C=0.641
Qatari	Global	Study-wide	216	T=0.773	C=0.227
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.603	C=0.397
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	50	T=0.76	C=0.24
The Danish reference pan genome	Danish	Study-wide	40	T=0.57	C=0.42
Siberian	Global	Study-wide	36	T=0.28	C=0.72

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.43098270T>A
GRCh38.p14 chr 18	NC_000018.10:g.43098270T>C
GRCh37.p13 chr 18	NC_000018.9:g.40678235T>A
GRCh37.p13 chr 18	NC_000018.9:g.40678235T>C

Gene: RIT2, Ras like without CAAX 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RIT2 transcript variant 2	NM_001272077.2:c.103+1714… NM_001272077.2:c.103+17147A>T	N/A	Intron Variant
RIT2 transcript variant 1	NM_002930.4:c.103+17147A>T	N/A	Intron 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.

Not Reported in ClinVar

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	T=	A	C
GRCh38.p14 chr 18	NC_000018.10:g.43098270=	NC_000018.10:g.43098270T>A	NC_000018.10:g.43098270T>C
GRCh37.p13 chr 18	NC_000018.9:g.40678235=	NC_000018.9:g.40678235T>A	NC_000018.9:g.40678235T>C
RIT2 transcript variant 2	NM_001272077.1:c.103+17147=	NM_001272077.1:c.103+17147A>T	NM_001272077.1:c.103+17147A>G
RIT2 transcript variant 2	NM_001272077.2:c.103+17147=	NM_001272077.2:c.103+17147A>T	NM_001272077.2:c.103+17147A>G
RIT2 transcript variant 1	NM_002930.3:c.103+17147=	NM_002930.3:c.103+17147A>T	NM_002930.3:c.103+17147A>G
RIT2 transcript variant 1	NM_002930.4:c.103+17147=	NM_002930.4:c.103+17147A>T	NM_002930.4:c.103+17147A>G
RIT2 transcript variant X1	XM_005258327.1:c.103+17147=	XM_005258327.1:c.103+17147A>T	XM_005258327.1:c.103+17147A>G

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#.

154 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss5579121	Oct 10, 2002 (108)
2	SC_JCM	ss6003474	Feb 20, 2003 (111)
3	WI_SSAHASNP	ss14413602	Dec 05, 2003 (119)
4	CSHL-HAPMAP	ss17606860	Feb 27, 2004 (120)
5	ABI	ss44147678	Mar 15, 2006 (126)
6	ILLUMINA	ss66586289	Nov 29, 2006 (127)
7	ILLUMINA	ss67315078	Nov 29, 2006 (127)
8	ILLUMINA	ss67721368	Nov 29, 2006 (127)
9	PERLEGEN	ss69212697	May 16, 2007 (127)
10	ILLUMINA	ss70793689	May 25, 2008 (130)
11	ILLUMINA	ss71371503	May 16, 2007 (127)
12	ILLUMINA	ss74923721	Dec 07, 2007 (129)
13	HGSV	ss77321708	Dec 07, 2007 (129)
14	ILLUMINA	ss79175405	Dec 15, 2007 (130)
15	KRIBB_YJKIM	ss84227441	Dec 15, 2007 (130)
16	1000GENOMES	ss110442575	Jan 24, 2009 (130)
17	ILLUMINA-UK	ss117855967	Feb 14, 2009 (130)
18	ILLUMINA	ss122271351	Dec 01, 2009 (131)
19	ILLUMINA	ss154282325	Dec 01, 2009 (131)
20	GMI	ss155099226	Dec 01, 2009 (131)
21	ILLUMINA	ss159459225	Dec 01, 2009 (131)
22	ILLUMINA	ss160661994	Dec 01, 2009 (131)
23	ENSEMBL	ss161853691	Dec 01, 2009 (131)
24	COMPLETE_GENOMICS	ss168130617	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss171739856	Jul 04, 2010 (132)
26	ILLUMINA	ss171740924	Jul 04, 2010 (132)
27	ILLUMINA	ss173688213	Jul 04, 2010 (132)
28	BCM-HGSC-SUB	ss208158891	Jul 04, 2010 (132)
29	1000GENOMES	ss211881248	Jul 14, 2010 (132)
30	1000GENOMES	ss227840375	Jul 14, 2010 (132)
31	1000GENOMES	ss237451372	Jul 15, 2010 (132)
32	1000GENOMES	ss243703798	Jul 15, 2010 (132)
33	BL	ss255624467	May 09, 2011 (134)
34	GMI	ss282976704	May 04, 2012 (137)
35	GMI	ss287276802	Apr 25, 2013 (138)
36	PJP	ss292163425	May 09, 2011 (134)
37	ILLUMINA	ss480892278	May 04, 2012 (137)
38	ILLUMINA	ss480911113	May 04, 2012 (137)
39	ILLUMINA	ss481862581	Sep 08, 2015 (146)
40	ILLUMINA	ss485241176	May 04, 2012 (137)
41	EXOME_CHIP	ss491532925	May 04, 2012 (137)
42	ILLUMINA	ss537215369	Sep 08, 2015 (146)
43	TISHKOFF	ss565619307	Apr 25, 2013 (138)
44	SSMP	ss661449291	Apr 25, 2013 (138)
45	ILLUMINA	ss778902603	Sep 08, 2015 (146)
46	ILLUMINA	ss780684886	Sep 08, 2015 (146)
47	ILLUMINA	ss783066522	Sep 08, 2015 (146)
48	ILLUMINA	ss783358359	Sep 08, 2015 (146)
49	ILLUMINA	ss784024451	Sep 08, 2015 (146)
50	ILLUMINA	ss825505923	Apr 01, 2015 (144)
51	ILLUMINA	ss832324577	Sep 08, 2015 (146)
52	ILLUMINA	ss832970734	Jul 13, 2019 (153)
53	ILLUMINA	ss834363870	Sep 08, 2015 (146)
54	EVA-GONL	ss993691200	Aug 21, 2014 (142)
55	JMKIDD_LAB	ss1081473451	Aug 21, 2014 (142)
56	1000GENOMES	ss1360889797	Aug 21, 2014 (142)
57	HAMMER_LAB	ss1397744611	Sep 08, 2015 (146)
58	DDI	ss1428205538	Apr 01, 2015 (144)
59	EVA_GENOME_DK	ss1578388164	Apr 01, 2015 (144)
60	EVA_UK10K_ALSPAC	ss1636797911	Apr 01, 2015 (144)
61	EVA_UK10K_TWINSUK	ss1679791944	Apr 01, 2015 (144)
62	EVA_DECODE	ss1697747744	Apr 01, 2015 (144)
63	EVA_SVP	ss1713623169	Apr 01, 2015 (144)
64	ILLUMINA	ss1752255865	Sep 08, 2015 (146)
65	ILLUMINA	ss1752255866	Sep 08, 2015 (146)
66	HAMMER_LAB	ss1809035914	Sep 08, 2015 (146)
67	ILLUMINA	ss1917927028	Feb 12, 2016 (147)
68	WEILL_CORNELL_DGM	ss1937159740	Feb 12, 2016 (147)
69	ILLUMINA	ss1946499598	Feb 12, 2016 (147)
70	ILLUMINA	ss1946499601	Feb 12, 2016 (147)
71	ILLUMINA	ss1959801629	Feb 12, 2016 (147)
72	ILLUMINA	ss1959801630	Feb 12, 2016 (147)
73	GENOMED	ss1968515329	Jul 19, 2016 (147)
74	JJLAB	ss2029349101	Sep 14, 2016 (149)
75	USC_VALOUEV	ss2157853490	Dec 20, 2016 (150)
76	HUMAN_LONGEVITY	ss2221290745	Dec 20, 2016 (150)
77	SYSTEMSBIOZJU	ss2629172627	Nov 08, 2017 (151)
78	ILLUMINA	ss2633468507	Nov 08, 2017 (151)
79	ILLUMINA	ss2633468508	Nov 08, 2017 (151)
80	ILLUMINA	ss2633468509	Nov 08, 2017 (151)
81	GRF	ss2702439457	Nov 08, 2017 (151)
82	ILLUMINA	ss2710867099	Nov 08, 2017 (151)
83	GNOMAD	ss2956307707	Nov 08, 2017 (151)
84	AFFY	ss2985116989	Nov 08, 2017 (151)
85	SWEGEN	ss3016471410	Nov 08, 2017 (151)
86	ILLUMINA	ss3021840221	Nov 08, 2017 (151)
87	ILLUMINA	ss3021840222	Nov 08, 2017 (151)
88	BIOINF_KMB_FNS_UNIBA	ss3028502119	Nov 08, 2017 (151)
89	CSHL	ss3352006968	Nov 08, 2017 (151)
90	ILLUMINA	ss3625724844	Oct 12, 2018 (152)
91	ILLUMINA	ss3627800814	Oct 12, 2018 (152)
92	ILLUMINA	ss3627800815	Oct 12, 2018 (152)
93	ILLUMINA	ss3631445301	Oct 12, 2018 (152)
94	ILLUMINA	ss3633161297	Oct 12, 2018 (152)
95	ILLUMINA	ss3633870032	Oct 12, 2018 (152)
96	ILLUMINA	ss3634704468	Oct 12, 2018 (152)
97	ILLUMINA	ss3634704469	Oct 12, 2018 (152)
98	ILLUMINA	ss3635557339	Oct 12, 2018 (152)
99	ILLUMINA	ss3636393719	Oct 12, 2018 (152)
100	ILLUMINA	ss3637308948	Oct 12, 2018 (152)
101	ILLUMINA	ss3638194135	Oct 12, 2018 (152)
102	ILLUMINA	ss3639105088	Oct 12, 2018 (152)
103	ILLUMINA	ss3639560973	Oct 12, 2018 (152)
104	ILLUMINA	ss3640411776	Oct 12, 2018 (152)
105	ILLUMINA	ss3640411777	Oct 12, 2018 (152)
106	ILLUMINA	ss3643170087	Oct 12, 2018 (152)
107	ILLUMINA	ss3644705059	Oct 12, 2018 (152)
108	ILLUMINA	ss3644705060	Oct 12, 2018 (152)
109	ILLUMINA	ss3652261497	Oct 12, 2018 (152)
110	ILLUMINA	ss3652261498	Oct 12, 2018 (152)
111	ILLUMINA	ss3653889178	Oct 12, 2018 (152)
112	EGCUT_WGS	ss3683310085	Jul 13, 2019 (153)
113	EVA_DECODE	ss3701591592	Jul 13, 2019 (153)
114	ILLUMINA	ss3725673909	Jul 13, 2019 (153)
115	ACPOP	ss3742513433	Jul 13, 2019 (153)
116	ILLUMINA	ss3744158236	Jul 13, 2019 (153)
117	ILLUMINA	ss3744453786	Jul 13, 2019 (153)
118	ILLUMINA	ss3745004616	Jul 13, 2019 (153)
119	ILLUMINA	ss3745004617	Jul 13, 2019 (153)
120	EVA	ss3755345160	Jul 13, 2019 (153)
121	PAGE_CC	ss3771969657	Jul 13, 2019 (153)
122	ILLUMINA	ss3772502127	Jul 13, 2019 (153)
123	ILLUMINA	ss3772502128	Jul 13, 2019 (153)
124	PACBIO	ss3788361117	Jul 13, 2019 (153)
125	PACBIO	ss3793293558	Jul 13, 2019 (153)
126	PACBIO	ss3798179901	Jul 13, 2019 (153)
127	KHV_HUMAN_GENOMES	ss3820610267	Jul 13, 2019 (153)
128	EVA	ss3835151865	Apr 27, 2020 (154)
129	EVA	ss3841193077	Apr 27, 2020 (154)
130	EVA	ss3846695079	Apr 27, 2020 (154)
131	HGDP	ss3847582109	Apr 27, 2020 (154)
132	SGDP_PRJ	ss3886949412	Apr 27, 2020 (154)
133	KRGDB	ss3936811483	Apr 27, 2020 (154)
134	KOGIC	ss3980085236	Apr 27, 2020 (154)
135	EVA	ss3984732268	Apr 26, 2021 (155)
136	EVA	ss3984732269	Apr 26, 2021 (155)
137	EVA	ss3985823623	Apr 26, 2021 (155)
138	TOPMED	ss5055507975	Apr 26, 2021 (155)
139	TOMMO_GENOMICS	ss5225018996	Apr 26, 2021 (155)
140	1000G_HIGH_COVERAGE	ss5305176932	Oct 16, 2022 (156)
141	EVA	ss5315930292	Oct 16, 2022 (156)
142	HUGCELL_USP	ss5497959720	Oct 16, 2022 (156)
143	EVA	ss5511926110	Oct 16, 2022 (156)
144	1000G_HIGH_COVERAGE	ss5609959082	Oct 16, 2022 (156)
145	SANFORD_IMAGENETICS	ss5624412930	Oct 16, 2022 (156)
146	SANFORD_IMAGENETICS	ss5661229374	Oct 16, 2022 (156)
147	TOMMO_GENOMICS	ss5782766960	Oct 16, 2022 (156)
148	EVA	ss5799992358	Oct 16, 2022 (156)
149	YY_MCH	ss5817067016	Oct 16, 2022 (156)
150	EVA	ss5827497145	Oct 16, 2022 (156)
151	EVA	ss5847820357	Oct 16, 2022 (156)
152	EVA	ss5852038441	Oct 16, 2022 (156)
153	EVA	ss5873946205	Oct 16, 2022 (156)
154	EVA	ss5952639197	Oct 16, 2022 (156)
155	1000Genomes	NC_000018.9 - 40678235	Oct 12, 2018 (152)
156	1000Genomes_30x	NC_000018.10 - 43098270	Oct 16, 2022 (156)
157	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 40678235	Oct 12, 2018 (152)
158	Genome-wide autozygosity in Daghestan	NC_000018.8 - 38932233	Apr 27, 2020 (154)
159	Genetic variation in the Estonian population	NC_000018.9 - 40678235	Oct 12, 2018 (152)
160	The Danish reference pan genome	NC_000018.9 - 40678235	Apr 27, 2020 (154)
161	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523566887 (NC_000018.10:43098269:T:A 1/139840) Row 523566888 (NC_000018.10:43098269:T:C 44973/139770)	-	Apr 26, 2021 (155)
162	gnomAD - Genomes Submission ignored due to conflicting rows: Row 523566887 (NC_000018.10:43098269:T:A 1/139840) Row 523566888 (NC_000018.10:43098269:T:C 44973/139770)	-	Apr 26, 2021 (155)
163	Genome of the Netherlands Release 5	NC_000018.9 - 40678235	Apr 27, 2020 (154)
164	HGDP-CEPH-db Supplement 1	NC_000018.8 - 38932233	Apr 27, 2020 (154)
165	HapMap	NC_000018.10 - 43098270	Apr 27, 2020 (154)
166	KOREAN population from KRGDB	NC_000018.9 - 40678235	Apr 27, 2020 (154)
167	Korean Genome Project	NC_000018.10 - 43098270	Apr 27, 2020 (154)
168	Northern Sweden	NC_000018.9 - 40678235	Jul 13, 2019 (153)
169	The PAGE Study	NC_000018.10 - 43098270	Jul 13, 2019 (153)
170	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000018.9 - 40678235	Apr 26, 2021 (155)
171	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 281820 (NC_000018.9:40678234:T:C 329/780) Row 281821 (NC_000018.9:40678234:T:C 329/780)	-	Apr 26, 2021 (155)
172	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 281820 (NC_000018.9:40678234:T:C 329/780) Row 281821 (NC_000018.9:40678234:T:C 329/780)	-	Apr 26, 2021 (155)
173	Qatari	NC_000018.9 - 40678235	Apr 27, 2020 (154)
174	SGDP_PRJ	NC_000018.9 - 40678235	Apr 27, 2020 (154)
175	Siberian	NC_000018.9 - 40678235	Apr 27, 2020 (154)
176	8.3KJPN	NC_000018.9 - 40678235	Apr 26, 2021 (155)
177	14KJPN	NC_000018.10 - 43098270	Oct 16, 2022 (156)
178	TopMed	NC_000018.10 - 43098270	Apr 26, 2021 (155)
179	UK 10K study - Twins	NC_000018.9 - 40678235	Oct 12, 2018 (152)
180	A Vietnamese Genetic Variation Database	NC_000018.9 - 40678235	Jul 13, 2019 (153)
181	ALFA	NC_000018.10 - 43098270	Apr 26, 2021 (155)

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)
rs60100501	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
8060042124	NC_000018.10:43098269:T:A	NC_000018.10:43098269:T:A	(self)
214310, 260001, ss77321708, ss110442575, ss117855967, ss168130617, ss171739856, ss208158891, ss211881248, ss255624467, ss282976704, ss287276802, ss292163425, ss480892278, ss825505923, ss1397744611, ss1697747744, ss1713623169, ss3639105088, ss3639560973, ss3643170087, ss3847582109	NC_000018.8:38932232:T:C	NC_000018.10:43098269:T:C	(self)
74214510, 41114323, 29048333, 4580831, 18319563, 43988877, 15798298, 1049550, 19201662, 38966392, 10369844, 82988303, 41114323, 9084544, ss227840375, ss237451372, ss243703798, ss480911113, ss481862581, ss485241176, ss491532925, ss537215369, ss565619307, ss661449291, ss778902603, ss780684886, ss783066522, ss783358359, ss784024451, ss832324577, ss832970734, ss834363870, ss993691200, ss1081473451, ss1360889797, ss1428205538, ss1578388164, ss1636797911, ss1679791944, ss1752255865, ss1752255866, ss1809035914, ss1917927028, ss1937159740, ss1946499598, ss1946499601, ss1959801629, ss1959801630, ss1968515329, ss2029349101, ss2157853490, ss2629172627, ss2633468507, ss2633468508, ss2633468509, ss2702439457, ss2710867099, ss2956307707, ss2985116989, ss3016471410, ss3021840221, ss3021840222, ss3352006968, ss3625724844, ss3627800814, ss3627800815, ss3631445301, ss3633161297, ss3633870032, ss3634704468, ss3634704469, ss3635557339, ss3636393719, ss3637308948, ss3638194135, ss3640411776, ss3640411777, ss3644705059, ss3644705060, ss3652261497, ss3652261498, ss3653889178, ss3683310085, ss3742513433, ss3744158236, ss3744453786, ss3745004616, ss3745004617, ss3755345160, ss3772502127, ss3772502128, ss3788361117, ss3793293558, ss3798179901, ss3835151865, ss3841193077, ss3886949412, ss3936811483, ss3984732268, ss3984732269, ss3985823623, ss5225018996, ss5315930292, ss5511926110, ss5624412930, ss5661229374, ss5799992358, ss5827497145, ss5847820357, ss5952639197	NC_000018.9:40678234:T:C	NC_000018.10:43098269:T:C	(self)
97485017, 1594742, 36463237, 1191126, 116604064, 271053638, 8060042124, ss2221290745, ss3028502119, ss3701591592, ss3725673909, ss3771969657, ss3820610267, ss3846695079, ss3980085236, ss5055507975, ss5305176932, ss5497959720, ss5609959082, ss5782766960, ss5817067016, ss5852038441, ss5873946205	NC_000018.10:43098269:T:C	NC_000018.10:43098269:T:C	(self)
ss14413602, ss17606860	NT_010966.13:22167336:T:C	NC_000018.10:43098269:T:C	(self)
ss5579121, ss6003474, ss44147678, ss66586289, ss67315078, ss67721368, ss69212697, ss70793689, ss71371503, ss74923721, ss79175405, ss84227441, ss122271351, ss154282325, ss155099226, ss159459225, ss160661994, ss161853691, ss171740924, ss173688213	NT_010966.14:22167336:T:C	NC_000018.10:43098269:T:C	(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 rs4130047

PMID	Title	Author	Year	Journal
21738487	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Do CB et al.	2011	PLoS genetics
22892372	Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.	Keller MF et al.	2012	Human molecular genetics
28190241	Ras-like without CAAX 2 (RIT2): a susceptibility gene for autism spectrum disorder.	Hamedani SY et al.	2017	Metabolic brain disease

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

rs4130047