Name: rs683
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.

rs683

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:12709305 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.394186 (116091/294508, ALFA)
A=0.438585 (116089/264690, TOPMED)
A=0.480151 (67104/139756, GnomAD) (+ 21 more)
A=0.26935 (21191/78676, PAGE_STUDY)
A=0.00039 (11/28258, 14KJPN)
A=0.00042 (7/16760, 8.3KJPN)
A=0.2550 (1633/6404, 1000G_30x)
A=0.2520 (1262/5008, 1000G)
C=0.3025 (1355/4480, Estonian)
C=0.3495 (1347/3854, ALSPAC)
C=0.3269 (1212/3708, TWINSUK)
A=0.0041 (12/2922, KOREAN)
A=0.2767 (576/2082, HGDP_Stanford)
A=0.2813 (508/1806, HapMap)
C=0.325 (324/998, GoNL)
A=0.011 (9/792, PRJEB37584)
C=0.255 (153/600, NorthernSweden)
A=0.375 (200/534, MGP)
C=0.351 (80/228, SGDP_PRJ)
A=0.278 (60/216, Qatari)
A=0.019 (4/214, Vietnamese)
C=0.33 (14/42, Siberian)
C=0.35 (14/40, GENOME_DK)
A=0.2 (2/10, Ancient Sardinia)

Clinical Significance: Reported in ClinVar
Gene : Consequence: LURAP1L-AS1 : Intron Variant
TYRP1 : 3 Prime UTR Variant
Publications: 8 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	294602	C=0.394223	A=0.605777
European	Sub	261788	C=0.355849	A=0.644151
African	Sub	10650	C=0.79859	A=0.20141
African Others	Sub	394	C=0.873	A=0.127
African American	Sub	10256	C=0.79573	A=0.20427
Asian	Sub	3652	C=0.9948	A=0.0052
East Asian	Sub	2938	C=0.9976	A=0.0024
Other Asian	Sub	714	C=0.983	A=0.017
Latin American 1	Sub	1038	C=0.5780	A=0.4220
Latin American 2	Sub	2970	C=0.5471	A=0.4529
South Asian	Sub	5204	C=0.7256	A=0.2744
Other	Sub	9300	C=0.5208	A=0.4792

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	294508	C=0.394186	A=0.605814
Allele Frequency Aggregator	European	Sub	261712	C=0.355811	A=0.644189
Allele Frequency Aggregator	African	Sub	10650	C=0.79859	A=0.20141
Allele Frequency Aggregator	Other	Sub	9282	C=0.5206	A=0.4794
Allele Frequency Aggregator	South Asian	Sub	5204	C=0.7256	A=0.2744
Allele Frequency Aggregator	Asian	Sub	3652	C=0.9948	A=0.0052
Allele Frequency Aggregator	Latin American 2	Sub	2970	C=0.5471	A=0.4529
Allele Frequency Aggregator	Latin American 1	Sub	1038	C=0.5780	A=0.4220
TopMed	Global	Study-wide	264690	C=0.561415	A=0.438585
gnomAD - Genomes	Global	Study-wide	139756	C=0.519849	A=0.480151
gnomAD - Genomes	European	Sub	75738	C=0.33405	A=0.66595
gnomAD - Genomes	African	Sub	41894	C=0.80551	A=0.19449
gnomAD - Genomes	American	Sub	13556	C=0.58129	A=0.41871
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.4567	A=0.5433
gnomAD - Genomes	East Asian	Sub	3098	C=0.9897	A=0.0103
gnomAD - Genomes	Other	Sub	2148	C=0.5321	A=0.4679
The PAGE Study	Global	Study-wide	78676	C=0.73065	A=0.26935
The PAGE Study	AfricanAmerican	Sub	32512	C=0.79678	A=0.20322
The PAGE Study	Mexican	Sub	10806	C=0.54720	A=0.45280
The PAGE Study	Asian	Sub	8310	C=0.9939	A=0.0061
The PAGE Study	PuertoRican	Sub	7916	C=0.6148	A=0.3852
The PAGE Study	NativeHawaiian	Sub	4532	C=0.8367	A=0.1633
The PAGE Study	Cuban	Sub	4228	C=0.5284	A=0.4716
The PAGE Study	Dominican	Sub	3826	C=0.6592	A=0.3408
The PAGE Study	CentralAmerican	Sub	2448	C=0.6450	A=0.3550
The PAGE Study	SouthAmerican	Sub	1982	C=0.5949	A=0.4051
The PAGE Study	NativeAmerican	Sub	1260	C=0.4794	A=0.5206
The PAGE Study	SouthAsian	Sub	856	C=0.737	A=0.263
14KJPN	JAPANESE	Study-wide	28258	C=0.99961	A=0.00039
8.3KJPN	JAPANESE	Study-wide	16760	C=0.99958	A=0.00042
1000Genomes_30x	Global	Study-wide	6404	C=0.7450	A=0.2550
1000Genomes_30x	African	Sub	1786	C=0.8947	A=0.1053
1000Genomes_30x	Europe	Sub	1266	C=0.3641	A=0.6359
1000Genomes_30x	South Asian	Sub	1202	C=0.7970	A=0.2030
1000Genomes_30x	East Asian	Sub	1170	C=0.9897	A=0.0103
1000Genomes_30x	American	Sub	980	C=0.608	A=0.392
1000Genomes	Global	Study-wide	5008	C=0.7480	A=0.2520
1000Genomes	African	Sub	1322	C=0.8880	A=0.1120
1000Genomes	East Asian	Sub	1008	C=0.9891	A=0.0109
1000Genomes	Europe	Sub	1006	C=0.3728	A=0.6272
1000Genomes	South Asian	Sub	978	C=0.790	A=0.210
1000Genomes	American	Sub	694	C=0.615	A=0.385
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.3025	A=0.6975
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3495	A=0.6505
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3269	A=0.6731
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9959	A=0.0041
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	C=0.7233	A=0.2767
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.968	A=0.032
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.766	A=0.234
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.574	A=0.426
HGDP-CEPH-db Supplement 1	Europe	Sub	318	C=0.393	A=0.607
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.707	A=0.293
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.769	A=0.231
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.99	A=0.01
HapMap	Global	Study-wide	1806	C=0.7187	A=0.2813
HapMap	American	Sub	770	C=0.649	A=0.351
HapMap	African	Sub	690	C=0.807	A=0.193
HapMap	Europe	Sub	176	C=0.409	A=0.591
HapMap	Asian	Sub	170	C=0.994	A=0.006
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.325	A=0.675
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.989	A=0.011
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.989	A=0.011
Northern Sweden	ACPOP	Study-wide	600	C=0.255	A=0.745
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.625	A=0.375
SGDP_PRJ	Global	Study-wide	228	C=0.351	A=0.649
Qatari	Global	Study-wide	216	C=0.722	A=0.278
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.981	A=0.019
Siberian	Global	Study-wide	42	C=0.33	A=0.67
The Danish reference pan genome	Danish	Study-wide	40	C=0.35	A=0.65
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	10	C=0.8	A=0.2

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 9	NC_000009.12:g.12709305C>A
GRCh37.p13 chr 9	NC_000009.11:g.12709305C>A
TYRP1 RefSeqGene	NG_011705.1:g.20920C>A

Gene: TYRP1, tyrosinase related protein 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TYRP1 transcript	NM_000550.3:c.*123=	N/A	3 Prime UTR Variant
TYRP1 transcript variant X1	XM_047423841.1:c.	N/A	Genic Downstream Transcript Variant

Gene: LURAP1L-AS1, LURAP1L antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LURAP1L-AS1 transcript	NR_125775.1:n.	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.

Allele: A (allele ID: 316831 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000280833.3	Oculocutaneous albinism type 3	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
GRCh38.p14 chr 9	NC_000009.12:g.12709305=	NC_000009.12:g.12709305C>A
GRCh37.p13 chr 9	NC_000009.11:g.12709305=	NC_000009.11:g.12709305C>A
TYRP1 RefSeqGene	NG_011705.1:g.20920=	NG_011705.1:g.20920C>A
TYRP1 transcript	NM_000550.3:c.*123=	NM_000550.3:c.*123C>A
TYRP1 transcript	NM_000550.2:c.*123=	NM_000550.2:c.*123C>A

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#.

150 SubSNP, 24 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF	ss688	Sep 19, 2000 (36)
2	SC_JCM	ss3859305	Sep 28, 2001 (100)
3	SC_SNP	ss15535522	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss17277964	Feb 27, 2004 (120)
5	CSHL-HAPMAP	ss19798466	Feb 27, 2004 (120)
6	SSAHASNP	ss22805583	Apr 05, 2004 (121)
7	PERLEGEN	ss24430042	Sep 20, 2004 (123)
8	ABI	ss43887276	Mar 14, 2006 (126)
9	SI_EXO	ss61714540	Oct 16, 2006 (127)
10	ILLUMINA	ss67505457	Dec 01, 2006 (127)
11	ILLUMINA	ss67867673	Dec 01, 2006 (127)
12	ILLUMINA	ss68261098	Dec 12, 2006 (127)
13	PERLEGEN	ss69283008	May 18, 2007 (127)
14	ILLUMINA	ss70889969	May 24, 2008 (130)
15	ILLUMINA	ss71482646	May 18, 2007 (127)
16	ILLUMINA	ss75891983	Dec 07, 2007 (129)
17	KRIBB_YJKIM	ss83344251	Dec 14, 2007 (130)
18	BCMHGSC_JDW	ss94014197	Mar 25, 2008 (129)
19	HUMANGENOME_JCVI	ss97779195	Feb 04, 2009 (130)
20	1000GENOMES	ss108610225	Jan 23, 2009 (130)
21	ENSEMBL	ss134233833	Dec 01, 2009 (131)
22	ENSEMBL	ss143958631	Dec 01, 2009 (131)
23	ILLUMINA	ss154386024	Dec 01, 2009 (131)
24	ILLUMINA	ss159561760	Dec 01, 2009 (131)
25	ILLUMINA	ss160815069	Dec 01, 2009 (131)
26	COMPLETE_GENOMICS	ss163819442	Jul 04, 2010 (132)
27	COMPLETE_GENOMICS	ss166173052	Jul 04, 2010 (132)
28	ILLUMINA	ss174132353	Jul 04, 2010 (132)
29	BUSHMAN	ss200117443	Jul 04, 2010 (132)
30	BCM-HGSC-SUB	ss206724463	Jul 04, 2010 (132)
31	1000GENOMES	ss224132483	Jul 14, 2010 (132)
32	1000GENOMES	ss234733849	Jul 15, 2010 (132)
33	ILLUMINA	ss244306650	Jul 04, 2010 (132)
34	BL	ss254062967	May 09, 2011 (134)
35	GMI	ss285973606	Apr 25, 2013 (138)
36	PJP	ss294399414	May 09, 2011 (134)
37	ILLUMINA	ss481370699	May 04, 2012 (137)
38	ILLUMINA	ss481396643	May 04, 2012 (137)
39	ILLUMINA	ss482375020	Sep 08, 2015 (146)
40	ILLUMINA	ss485480490	May 04, 2012 (137)
41	ILLUMINA	ss537399044	Sep 08, 2015 (146)
42	TISHKOFF	ss561249263	Apr 25, 2013 (138)
43	SSMP	ss655678923	Apr 25, 2013 (138)
44	ILLUMINA	ss778953524	Sep 08, 2015 (146)
45	ILLUMINA	ss783185740	Sep 08, 2015 (146)
46	ILLUMINA	ss784140978	Sep 08, 2015 (146)
47	ILLUMINA	ss832445459	Sep 08, 2015 (146)
48	ILLUMINA	ss833072910	Jul 13, 2019 (153)
49	ILLUMINA	ss834415393	Sep 08, 2015 (146)
50	EVA-GONL	ss986330387	Aug 21, 2014 (142)
51	JMKIDD_LAB	ss1076127175	Aug 21, 2014 (142)
52	1000GENOMES	ss1332968120	Aug 21, 2014 (142)
53	DDI	ss1431756581	Apr 01, 2015 (144)
54	EVA_GENOME_DK	ss1582995213	Apr 01, 2015 (144)
55	EVA_DECODE	ss1595959642	Apr 01, 2015 (144)
56	EVA_UK10K_ALSPAC	ss1622287020	Apr 01, 2015 (144)
57	EVA_UK10K_TWINSUK	ss1665281053	Apr 01, 2015 (144)
58	EVA_MGP	ss1711216292	Apr 01, 2015 (144)
59	EVA_SVP	ss1713092336	Apr 01, 2015 (144)
60	ILLUMINA	ss1752759903	Sep 08, 2015 (146)
61	HAMMER_LAB	ss1805886256	Sep 08, 2015 (146)
62	WEILL_CORNELL_DGM	ss1929612499	Feb 12, 2016 (147)
63	ILLUMINA	ss1946253476	Feb 12, 2016 (147)
64	ILLUMINA	ss1959166711	Feb 12, 2016 (147)
65	GENOMED	ss1971159549	Jul 19, 2016 (147)
66	JJLAB	ss2025517071	Sep 14, 2016 (149)
67	ILLUMINA	ss2095219882	Dec 20, 2016 (150)
68	USC_VALOUEV	ss2153744472	Dec 20, 2016 (150)
69	HUMAN_LONGEVITY	ss2309540026	Dec 20, 2016 (150)
70	ILLUMINA	ss2634839343	Nov 08, 2017 (151)
71	ILLUMINA	ss2635192319	Nov 08, 2017 (151)
72	GRF	ss2709543379	Nov 08, 2017 (151)
73	ILLUMINA	ss2711157237	Nov 08, 2017 (151)
74	GNOMAD	ss2875611689	Nov 08, 2017 (151)
75	AFFY	ss2985456154	Nov 08, 2017 (151)
76	AFFY	ss2986100349	Nov 08, 2017 (151)
77	SWEGEN	ss3004411644	Nov 08, 2017 (151)
78	ILLUMINA	ss3022909685	Nov 08, 2017 (151)
79	BIOINF_KMB_FNS_UNIBA	ss3026547479	Nov 08, 2017 (151)
80	CSHL	ss3348533052	Nov 08, 2017 (151)
81	ILLUMINA	ss3625979371	Oct 12, 2018 (152)
82	ILLUMINA	ss3630217412	Oct 12, 2018 (152)
83	ILLUMINA	ss3632733231	Oct 12, 2018 (152)
84	ILLUMINA	ss3633525939	Oct 12, 2018 (152)
85	ILLUMINA	ss3634253884	Oct 12, 2018 (152)
86	ILLUMINA	ss3635203676	Oct 12, 2018 (152)
87	ILLUMINA	ss3635932076	Oct 12, 2018 (152)
88	ILLUMINA	ss3636947350	Oct 12, 2018 (152)
89	ILLUMINA	ss3637685363	Oct 12, 2018 (152)
90	ILLUMINA	ss3638801324	Oct 12, 2018 (152)
91	ILLUMINA	ss3639404858	Oct 12, 2018 (152)
92	ILLUMINA	ss3639994678	Oct 12, 2018 (152)
93	ILLUMINA	ss3640910967	Oct 12, 2018 (152)
94	ILLUMINA	ss3641239300	Oct 12, 2018 (152)
95	ILLUMINA	ss3641537153	Oct 12, 2018 (152)
96	ILLUMINA	ss3643729132	Oct 12, 2018 (152)
97	ILLUMINA	ss3644037715	Oct 12, 2018 (152)
98	ILLUMINA	ss3644986772	Oct 12, 2018 (152)
99	OMUKHERJEE_ADBS	ss3646384748	Oct 12, 2018 (152)
100	URBANLAB	ss3649074488	Oct 12, 2018 (152)
101	ILLUMINA	ss3653460356	Oct 12, 2018 (152)
102	ILLUMINA	ss3654220257	Oct 12, 2018 (152)
103	EGCUT_WGS	ss3672151767	Jul 13, 2019 (153)
104	EVA_DECODE	ss3723508936	Jul 13, 2019 (153)
105	ILLUMINA	ss3726594729	Jul 13, 2019 (153)
106	ACPOP	ss3736325115	Jul 13, 2019 (153)
107	ILLUMINA	ss3744316439	Jul 13, 2019 (153)
108	ILLUMINA	ss3745503612	Jul 13, 2019 (153)
109	EVA	ss3768936648	Jul 13, 2019 (153)
110	PAGE_CC	ss3771487189	Jul 13, 2019 (153)
111	ILLUMINA	ss3772995709	Jul 13, 2019 (153)
112	PACBIO	ss3786352664	Jul 13, 2019 (153)
113	PACBIO	ss3791578012	Jul 13, 2019 (153)
114	PACBIO	ss3796459682	Jul 13, 2019 (153)
115	KHV_HUMAN_GENOMES	ss3812096444	Jul 13, 2019 (153)
116	EVA	ss3825752011	Apr 26, 2020 (154)
117	EVA	ss3831546325	Apr 26, 2020 (154)
118	EVA	ss3839288574	Apr 26, 2020 (154)
119	EVA	ss3844750790	Apr 26, 2020 (154)
120	HGDP	ss3847940563	Apr 26, 2020 (154)
121	SGDP_PRJ	ss3871556464	Apr 26, 2020 (154)
122	KRGDB	ss3919201663	Apr 26, 2020 (154)
123	FSA-LAB	ss3984413526	Apr 26, 2021 (155)
124	FSA-LAB	ss3984413527	Apr 26, 2021 (155)
125	EVA	ss3984616452	Apr 26, 2021 (155)
126	EVA	ss3985406824	Apr 26, 2021 (155)
127	EVA	ss4017427429	Apr 26, 2021 (155)
128	TOPMED	ss4813155247	Apr 26, 2021 (155)
129	TOMMO_GENOMICS	ss5192155960	Apr 26, 2021 (155)
130	EVA	ss5237455319	Apr 26, 2021 (155)
131	1000G_HIGH_COVERAGE	ss5279853994	Oct 13, 2022 (156)
132	EVA	ss5315385840	Oct 13, 2022 (156)
133	EVA	ss5386137674	Oct 13, 2022 (156)
134	HUGCELL_USP	ss5476129797	Oct 13, 2022 (156)
135	EVA	ss5509638514	Oct 13, 2022 (156)
136	1000G_HIGH_COVERAGE	ss5571650951	Oct 13, 2022 (156)
137	SANFORD_IMAGENETICS	ss5624713748	Oct 13, 2022 (156)
138	SANFORD_IMAGENETICS	ss5646940979	Oct 13, 2022 (156)
139	TOMMO_GENOMICS	ss5735224824	Oct 13, 2022 (156)
140	EVA	ss5799777725	Oct 13, 2022 (156)
141	EVA	ss5800150398	Oct 13, 2022 (156)
142	YY_MCH	ss5810359421	Oct 13, 2022 (156)
143	EVA	ss5828873960	Oct 13, 2022 (156)
144	EVA	ss5847352394	Oct 13, 2022 (156)
145	EVA	ss5848199130	Oct 13, 2022 (156)
146	EVA	ss5856679224	Oct 13, 2022 (156)
147	EVA	ss5915591276	Oct 13, 2022 (156)
148	EVA	ss5976213384	Oct 13, 2022 (156)
149	EVA	ss5979886464	Oct 13, 2022 (156)
150	EVA	ss5980542313	Oct 13, 2022 (156)
151	1000Genomes	NC_000009.11 - 12709305	Oct 12, 2018 (152)
152	1000Genomes_30x	NC_000009.12 - 12709305	Oct 13, 2022 (156)
153	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 12709305	Oct 12, 2018 (152)
154	Genetic variation in the Estonian population	NC_000009.11 - 12709305	Oct 12, 2018 (152)
155	The Danish reference pan genome	NC_000009.11 - 12709305	Apr 26, 2020 (154)
156	gnomAD - Genomes	NC_000009.12 - 12709305	Apr 26, 2021 (155)
157	Genome of the Netherlands Release 5	NC_000009.11 - 12709305	Apr 26, 2020 (154)
158	HGDP-CEPH-db Supplement 1	NC_000009.10 - 12699305	Apr 26, 2020 (154)
159	HapMap	NC_000009.12 - 12709305	Apr 26, 2020 (154)
160	KOREAN population from KRGDB	NC_000009.11 - 12709305	Apr 26, 2020 (154)
161	Medical Genome Project healthy controls from Spanish population	NC_000009.11 - 12709305	Apr 26, 2020 (154)
162	Northern Sweden	NC_000009.11 - 12709305	Jul 13, 2019 (153)
163	The PAGE Study	NC_000009.12 - 12709305	Jul 13, 2019 (153)
164	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000009.11 - 12709305	Apr 26, 2021 (155)
165	CNV burdens in cranial meningiomas	NC_000009.11 - 12709305	Apr 26, 2021 (155)
166	Qatari	NC_000009.11 - 12709305	Apr 26, 2020 (154)
167	SGDP_PRJ	NC_000009.11 - 12709305	Apr 26, 2020 (154)
168	Siberian	NC_000009.11 - 12709305	Apr 26, 2020 (154)
169	8.3KJPN	NC_000009.11 - 12709305	Apr 26, 2021 (155)
170	14KJPN	NC_000009.12 - 12709305	Oct 13, 2022 (156)
171	TopMed	NC_000009.12 - 12709305	Apr 26, 2021 (155)
172	UK 10K study - Twins	NC_000009.11 - 12709305	Oct 12, 2018 (152)
173	A Vietnamese Genetic Variation Database	NC_000009.11 - 12709305	Jul 13, 2019 (153)
174	ALFA	NC_000009.12 - 12709305	Apr 26, 2021 (155)
175	ClinVar	RCV000280833.3	Oct 13, 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)
rs17280727	Oct 08, 2004 (123)
rs58149463	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639404858, ss3639994678, ss3644037715	NC_000009.9:12699304:C:A	NC_000009.12:12709304:C:A	(self)
618455, ss94014197, ss108610225, ss163819442, ss166173052, ss200117443, ss206724463, ss254062967, ss285973606, ss294399414, ss481370699, ss1595959642, ss1713092336, ss2635192319, ss3643729132, ss3847940563	NC_000009.10:12699304:C:A	NC_000009.12:12709304:C:A	(self)
45198003, 25147317, 17890015, 9160150, 11217694, 26379057, 332052, 9609980, 632751, 165894, 11654429, 23573444, 6260826, 50125267, 25147317, 5585690, ss224132483, ss234733849, ss481396643, ss482375020, ss485480490, ss537399044, ss561249263, ss655678923, ss778953524, ss783185740, ss784140978, ss832445459, ss833072910, ss834415393, ss986330387, ss1076127175, ss1332968120, ss1431756581, ss1582995213, ss1622287020, ss1665281053, ss1711216292, ss1752759903, ss1805886256, ss1929612499, ss1946253476, ss1959166711, ss1971159549, ss2025517071, ss2095219882, ss2153744472, ss2634839343, ss2709543379, ss2711157237, ss2875611689, ss2985456154, ss2986100349, ss3004411644, ss3022909685, ss3348533052, ss3625979371, ss3630217412, ss3632733231, ss3633525939, ss3634253884, ss3635203676, ss3635932076, ss3636947350, ss3637685363, ss3638801324, ss3640910967, ss3641239300, ss3641537153, ss3644986772, ss3646384748, ss3653460356, ss3654220257, ss3672151767, ss3736325115, ss3744316439, ss3745503612, ss3768936648, ss3772995709, ss3786352664, ss3791578012, ss3796459682, ss3825752011, ss3831546325, ss3839288574, ss3871556464, ss3919201663, ss3984413526, ss3984413527, ss3984616452, ss3985406824, ss4017427429, ss5192155960, ss5237455319, ss5315385840, ss5386137674, ss5509638514, ss5624713748, ss5646940979, ss5799777725, ss5800150398, ss5828873960, ss5847352394, ss5848199130, ss5976213384, ss5979886464, ss5980542313	NC_000009.11:12709304:C:A	NC_000009.12:12709304:C:A	(self)
RCV000280833.3, 59176886, 318582377, 3782560, 708658, 69061928, 650532808, 10160022759, ss2309540026, ss3026547479, ss3649074488, ss3723508936, ss3726594729, ss3771487189, ss3812096444, ss3844750790, ss4813155247, ss5279853994, ss5476129797, ss5571650951, ss5735224824, ss5810359421, ss5856679224, ss5915591276	NC_000009.12:12709304:C:A	NC_000009.12:12709304:C:A	(self)
ss15535522, ss17277964, ss19798466, ss22805583, ss61714540	NT_008413.16:12699304:C:A	NC_000009.12:12709304:C:A	(self)
ss688, ss3859305, ss24430042, ss43887276, ss67505457, ss67867673, ss68261098, ss69283008, ss70889969, ss71482646, ss75891983, ss83344251, ss97779195, ss134233833, ss143958631, ss154386024, ss159561760, ss160815069, ss174132353, ss244306650	NT_008413.18:12699304:C:A	NC_000009.12:12709304:C:A	(self)

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

8 citations for rs683

PMID	Title	Author	Year	Journal
18312627	Complex signatures of selection for the melanogenic loci TYR, TYRP1 and DCT in humans.	Alonso S et al.	2008	BMC evolutionary biology
20158590	Predicting phenotype from genotype: normal pigmentation.	Valenzuela RK et al.	2010	Journal of forensic sciences
21197618	Model-based prediction of human hair color using DNA variants.	Branicki W et al.	2011	Human genetics
22133426	Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing.	de Gruijter JM et al.	2011	Investigative genetics
22457636	Evidence for positive selection on a number of MicroRNA regulatory interactions during recent human evolution.	Li J et al.	2012	PLoS genetics
26547235	Crowdsourced direct-to-consumer genomic analysis of a family quartet.	Corpas M et al.	2015	BMC genomics
34449663	Non-Coding Variants in Cancer: Mechanistic Insights and Clinical Potential for Personalized Medicine.	Lange M et al.	2021	Non-coding RNA
35176104	Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.	Rauf S et al.	2022	PloS one

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

rs683