Name: rs1805005
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.

rs1805005

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:89919436 (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: G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.083007 (21971/264690, TOPMED)
T=0.085981 (21392/248798, GnomAD_exome)
T=0.129877 (25877/199242, ALFA) (+ 18 more)
T=0.081971 (11494/140220, GnomAD)
T=0.083207 (9974/119870, ExAC)
T=0.04351 (3420/78602, PAGE_STUDY)
T=0.0347 (222/6404, 1000G_30x)
T=0.0353 (177/5008, 1000G)
T=0.0496 (222/4480, Estonian)
T=0.1240 (478/3854, ALSPAC)
T=0.1181 (438/3708, TWINSUK)
T=0.0322 (54/1676, HapMap)
T=0.109 (109/998, GoNL)
T=0.001 (1/792, PRJEB37584)
T=0.100 (60/600, NorthernSweden)
T=0.058 (31/534, MGP)
T=0.043 (13/304, FINRISK)
T=0.028 (6/216, Qatari)
T=0.03 (2/68, Ancient Sardinia)
G=0.41 (19/46, SGDP_PRJ)
T=0.10 (4/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: MC1R : Missense Variant
LOC124903759 : 500B Downstream Variant
Publications: 21 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	215688	G=0.873303	T=0.126697
European	Sub	184234	G=0.865199	T=0.134801
African	Sub	12574	G=0.97376	T=0.02624
African Others	Sub	434	G=0.998	T=0.002
African American	Sub	12140	G=0.97290	T=0.02710
Asian	Sub	764	G=0.999	T=0.001
East Asian	Sub	602	G=1.000	T=0.000
Other Asian	Sub	162	G=0.994	T=0.006
Latin American 1	Sub	1046	G=0.9187	T=0.0813
Latin American 2	Sub	2282	G=0.9294	T=0.0706
South Asian	Sub	190	G=0.974	T=0.026
Other	Sub	14598	G=0.86916	T=0.13084

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.916993	T=0.083007
gnomAD - Exomes	Global	Study-wide	248798	G=0.914019	T=0.085981
gnomAD - Exomes	European	Sub	134170	G=0.888403	T=0.111597
gnomAD - Exomes	Asian	Sub	48560	G=0.99267	T=0.00733
gnomAD - Exomes	American	Sub	34512	G=0.93643	T=0.06357
gnomAD - Exomes	African	Sub	15466	G=0.98222	T=0.01778
gnomAD - Exomes	Ashkenazi Jewish	Sub	10040	G=0.71175	T=0.28825
gnomAD - Exomes	Other	Sub	6050	G=0.8843	T=0.1157
Allele Frequency Aggregator	Total	Global	199242	G=0.870123	T=0.129877
Allele Frequency Aggregator	European	Sub	174078	G=0.864256	T=0.135744
Allele Frequency Aggregator	Other	Sub	13146	G=0.86680	T=0.13320
Allele Frequency Aggregator	African	Sub	7736	G=0.9685	T=0.0315
Allele Frequency Aggregator	Latin American 2	Sub	2282	G=0.9294	T=0.0706
Allele Frequency Aggregator	Latin American 1	Sub	1046	G=0.9187	T=0.0813
Allele Frequency Aggregator	Asian	Sub	764	G=0.999	T=0.001
Allele Frequency Aggregator	South Asian	Sub	190	G=0.974	T=0.026
gnomAD - Genomes	Global	Study-wide	140220	G=0.918029	T=0.081971
gnomAD - Genomes	European	Sub	75918	G=0.89149	T=0.10851
gnomAD - Genomes	African	Sub	42048	G=0.97876	T=0.02124
gnomAD - Genomes	American	Sub	13652	G=0.91664	T=0.08336
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.6976	T=0.3024
gnomAD - Genomes	East Asian	Sub	3132	G=0.9990	T=0.0010
gnomAD - Genomes	Other	Sub	2150	G=0.8986	T=0.1014
ExAC	Global	Study-wide	119870	G=0.916793	T=0.083207
ExAC	Europe	Sub	72624	G=0.87866	T=0.12134
ExAC	Asian	Sub	25104	G=0.99295	T=0.00705
ExAC	American	Sub	11548	G=0.93938	T=0.06062
ExAC	African	Sub	9702	G=0.9804	T=0.0196
ExAC	Other	Sub	892	G=0.893	T=0.107
The PAGE Study	Global	Study-wide	78602	G=0.95649	T=0.04351
The PAGE Study	AfricanAmerican	Sub	32428	G=0.97521	T=0.02479
The PAGE Study	Mexican	Sub	10808	G=0.92635	T=0.07365
The PAGE Study	Asian	Sub	8314	G=0.9994	T=0.0006
The PAGE Study	PuertoRican	Sub	7918	G=0.9177	T=0.0823
The PAGE Study	NativeHawaiian	Sub	4530	G=0.9700	T=0.0300
The PAGE Study	Cuban	Sub	4230	G=0.8991	T=0.1009
The PAGE Study	Dominican	Sub	3826	G=0.9430	T=0.0570
The PAGE Study	CentralAmerican	Sub	2450	G=0.9351	T=0.0649
The PAGE Study	SouthAmerican	Sub	1982	G=0.9359	T=0.0641
The PAGE Study	NativeAmerican	Sub	1260	G=0.9278	T=0.0722
The PAGE Study	SouthAsian	Sub	856	G=0.994	T=0.006
1000Genomes_30x	Global	Study-wide	6404	G=0.9653	T=0.0347
1000Genomes_30x	African	Sub	1786	G=0.9950	T=0.0050
1000Genomes_30x	Europe	Sub	1266	G=0.8902	T=0.1098
1000Genomes_30x	South Asian	Sub	1202	G=0.9925	T=0.0075
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	G=0.934	T=0.066
1000Genomes	Global	Study-wide	5008	G=0.9647	T=0.0353
1000Genomes	African	Sub	1322	G=0.9947	T=0.0053
1000Genomes	East Asian	Sub	1008	G=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	G=0.8877	T=0.1123
1000Genomes	South Asian	Sub	978	G=0.993	T=0.007
1000Genomes	American	Sub	694	G=0.928	T=0.072
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9504	T=0.0496
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8760	T=0.1240
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8819	T=0.1181
HapMap	Global	Study-wide	1676	G=0.9678	T=0.0322
HapMap	American	Sub	666	G=0.967	T=0.033
HapMap	African	Sub	584	G=0.995	T=0.005
HapMap	Asian	Sub	250	G=0.996	T=0.004
HapMap	Europe	Sub	176	G=0.841	T=0.159
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.891	T=0.109
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.999	T=0.001
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.999	T=0.001
Northern Sweden	ACPOP	Study-wide	600	G=0.900	T=0.100
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.942	T=0.058
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.957	T=0.043
Qatari	Global	Study-wide	216	G=0.972	T=0.028
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	68	G=0.97	T=0.03
SGDP_PRJ	Global	Study-wide	46	G=0.41	T=0.59
The Danish reference pan genome	Danish	Study-wide	40	G=0.90	T=0.10

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 16	NC_000016.10:g.89919436G>T
GRCh37.p13 chr 16	NC_000016.9:g.89985844G>T
TUBB3 RefSeqGene	NG_027810.1:g.2428G>T
MC1R RefSeqGene	NG_012026.1:g.6558G>T

Gene: MC1R, melanocortin 1 receptor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MC1R transcript	NM_002386.4:c.178G>T	V [GTG] > L [TTG]	Coding Sequence Variant
melanocyte-stimulating hormone receptor	NP_002377.4:p.Val60Leu	V (Val) > L (Leu)	Missense Variant

Gene: LOC124903759, uncharacterized LOC124903759 (plus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124903759 transcript variant X1	XM_047435031.1:c.	N/A	Downstream Transcript Variant
LOC124903759 transcript variant X2	XM_047435032.1:c.	N/A	N/A

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: T (allele ID: 29350 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000015384.30	Skin/hair/eye pigmentation 2, blond hair/fair skin	Association
RCV000242490.2	not specified	Benign
RCV000276119.8	Melanoma, cutaneous malignant, susceptibility to, 5	Benign
RCV001269496.2	Malignant tumor of breast	Benign
RCV001650834.3	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	G=	T
GRCh38.p14 chr 16	NC_000016.10:g.89919436=	NC_000016.10:g.89919436G>T
GRCh37.p13 chr 16	NC_000016.9:g.89985844=	NC_000016.9:g.89985844G>T
TUBB3 RefSeqGene	NG_027810.1:g.2428=	NG_027810.1:g.2428G>T
MC1R RefSeqGene	NG_012026.1:g.6558=	NG_012026.1:g.6558G>T
MC1R transcript	NM_002386.4:c.178=	NM_002386.4:c.178G>T
MC1R transcript	NM_002386.3:c.178=	NM_002386.3:c.178G>T
melanocyte-stimulating hormone receptor	NP_002377.4:p.Val60=	NP_002377.4:p.Val60Leu

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#.

112 SubSNP, 21 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGBASE	ss2425918	Nov 14, 2000 (89)
2	WIAF-CSNP	ss3173165	Aug 15, 2001 (98)
3	SC_JCM	ss4193878	Nov 05, 2001 (101)
4	PGA-UW-FHCRC	ss4472754	Jul 03, 2002 (106)
5	ABI	ss40641735	Mar 13, 2006 (126)
6	SNP500CANCER	ss48295618	Mar 13, 2006 (126)
7	APPLERA_GI	ss48410327	Mar 13, 2006 (126)
8	ILLUMINA	ss74908842	Dec 07, 2007 (129)
9	BCMHGSC_JDW	ss90500879	Mar 24, 2008 (129)
10	KRIBB_YJKIM	ss119404117	Dec 01, 2009 (131)
11	ENSEMBL	ss136889282	Dec 01, 2009 (131)
12	ILLUMINA	ss160463237	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss171740719	Jul 04, 2010 (132)
14	ILLUMINA	ss172926356	Jul 04, 2010 (132)
15	1000GENOMES	ss237150927	Jul 15, 2010 (132)
16	OMICIA	ss244239411	May 27, 2010 (132)
17	ILLUMINA	ss244285161	Jul 04, 2010 (132)
18	OMIM-CURATED-RECORDS	ss275515490	Nov 24, 2010 (133)
19	GMI	ss287131166	Apr 25, 2013 (138)
20	ILLUMINA	ss480301591	May 04, 2012 (137)
21	ILLUMINA	ss480312680	May 04, 2012 (137)
22	ILLUMINA	ss481068738	Sep 08, 2015 (146)
23	ILLUMINA	ss484948596	May 04, 2012 (137)
24	EXOME_CHIP	ss491513788	May 04, 2012 (137)
25	CLINSEQ_SNP	ss491725581	May 04, 2012 (137)
26	ILLUMINA	ss535641755	Sep 08, 2015 (146)
27	TISHKOFF	ss565112649	Apr 25, 2013 (138)
28	NHLBI-ESP	ss713334818	Apr 25, 2013 (138)
29	ILLUMINA	ss778467886	Sep 08, 2015 (146)
30	ILLUMINA	ss782920605	Sep 08, 2015 (146)
31	ILLUMINA	ss783883616	Sep 08, 2015 (146)
32	ILLUMINA	ss832175732	Sep 08, 2015 (146)
33	ILLUMINA	ss833923645	Sep 08, 2015 (146)
34	JMKIDD_LAB	ss974496524	Aug 21, 2014 (142)
35	EVA-GONL	ss992830724	Aug 21, 2014 (142)
36	JMKIDD_LAB	ss1067565419	Aug 21, 2014 (142)
37	JMKIDD_LAB	ss1080869834	Aug 21, 2014 (142)
38	1000GENOMES	ss1357561422	Aug 21, 2014 (142)
39	EVA_GENOME_DK	ss1578051493	Apr 01, 2015 (144)
40	EVA_FINRISK	ss1584102408	Apr 01, 2015 (144)
41	EVA_UK10K_ALSPAC	ss1635117229	Apr 01, 2015 (144)
42	EVA_UK10K_TWINSUK	ss1678111262	Apr 01, 2015 (144)
43	EVA_EXAC	ss1692487403	Apr 01, 2015 (144)
44	EVA_DECODE	ss1696872304	Apr 01, 2015 (144)
45	EVA_MGP	ss1711441352	Apr 01, 2015 (144)
46	ILLUMINA	ss1752213129	Sep 08, 2015 (146)
47	WEILL_CORNELL_DGM	ss1936272970	Feb 12, 2016 (147)
48	ILLUMINA	ss1959711628	Feb 12, 2016 (147)
49	JJLAB	ss2028926292	Sep 14, 2016 (149)
50	ILLUMINA	ss2095070732	Dec 20, 2016 (150)
51	HUMAN_LONGEVITY	ss2214824147	Dec 20, 2016 (150)
52	ILLUMINA	ss2633363334	Nov 08, 2017 (151)
53	ILLUMINA	ss2635067378	Nov 08, 2017 (151)
54	ILLUMINA	ss2710841614	Nov 08, 2017 (151)
55	GNOMAD	ss2742271234	Nov 08, 2017 (151)
56	GNOMAD	ss2749635748	Nov 08, 2017 (151)
57	GNOMAD	ss2946702181	Nov 08, 2017 (151)
58	AFFY	ss2985080441	Nov 08, 2017 (151)
59	SWEGEN	ss3015041384	Nov 08, 2017 (151)
60	ILLUMINA	ss3021742082	Nov 08, 2017 (151)
61	CSHL	ss3351606486	Nov 08, 2017 (151)
62	ILLUMINA	ss3627602933	Oct 12, 2018 (152)
63	ILLUMINA	ss3631346728	Oct 12, 2018 (152)
64	ILLUMINA	ss3633132160	Oct 12, 2018 (152)
65	ILLUMINA	ss3633838988	Oct 12, 2018 (152)
66	ILLUMINA	ss3634658677	Oct 12, 2018 (152)
67	ILLUMINA	ss3635527014	Oct 12, 2018 (152)
68	ILLUMINA	ss3636350091	Oct 12, 2018 (152)
69	ILLUMINA	ss3637278508	Oct 12, 2018 (152)
70	ILLUMINA	ss3638143980	Oct 12, 2018 (152)
71	ILLUMINA	ss3640365997	Oct 12, 2018 (152)
72	ILLUMINA	ss3643123674	Oct 12, 2018 (152)
73	OMUKHERJEE_ADBS	ss3646500354	Oct 12, 2018 (152)
74	ILLUMINA	ss3652154479	Oct 12, 2018 (152)
75	ILLUMINA	ss3652154480	Oct 12, 2018 (152)
76	ILLUMINA	ss3653852538	Oct 12, 2018 (152)
77	EGCUT_WGS	ss3682019181	Jul 13, 2019 (153)
78	EVA_DECODE	ss3699905738	Jul 13, 2019 (153)
79	ILLUMINA	ss3725591480	Jul 13, 2019 (153)
80	ACPOP	ss3741791954	Jul 13, 2019 (153)
81	ILLUMINA	ss3744959040	Jul 13, 2019 (153)
82	EVA	ss3754343113	Jul 13, 2019 (153)
83	PAGE_CC	ss3771903542	Jul 13, 2019 (153)
84	ILLUMINA	ss3772457146	Jul 13, 2019 (153)
85	KHV_HUMAN_GENOMES	ss3819613400	Jul 13, 2019 (153)
86	EVA	ss3825053855	Apr 27, 2020 (154)
87	EVA	ss3825887446	Apr 27, 2020 (154)
88	EVA	ss3834732213	Apr 27, 2020 (154)
89	SGDP_PRJ	ss3885136844	Apr 27, 2020 (154)
90	FSA-LAB	ss3984102667	Apr 27, 2021 (155)
91	EVA	ss3984718268	Apr 27, 2021 (155)
92	EVA	ss3985776300	Apr 27, 2021 (155)
93	EVA	ss3986703902	Apr 27, 2021 (155)
94	EVA	ss4017752225	Apr 27, 2021 (155)
95	TOPMED	ss5026622628	Apr 27, 2021 (155)
96	EVA	ss5237570265	Apr 27, 2021 (155)
97	EVA	ss5237667443	Oct 16, 2022 (156)
98	1000G_HIGH_COVERAGE	ss5302107342	Oct 16, 2022 (156)
99	EVA	ss5425824589	Oct 16, 2022 (156)
100	HUGCELL_USP	ss5495328302	Oct 16, 2022 (156)
101	1000G_HIGH_COVERAGE	ss5605329341	Oct 16, 2022 (156)
102	EVA	ss5624066458	Oct 16, 2022 (156)
103	SANFORD_IMAGENETICS	ss5624389589	Oct 16, 2022 (156)
104	SANFORD_IMAGENETICS	ss5659545413	Oct 16, 2022 (156)
105	EVA	ss5799967743	Oct 16, 2022 (156)
106	EVA	ss5846860249	Oct 16, 2022 (156)
107	EVA	ss5847469286	Oct 16, 2022 (156)
108	EVA	ss5847783819	Oct 16, 2022 (156)
109	EVA	ss5848435438	Oct 16, 2022 (156)
110	EVA	ss5900402850	Oct 16, 2022 (156)
111	EVA	ss5950960226	Oct 16, 2022 (156)
112	EVA	ss5979496595	Oct 16, 2022 (156)
113	1000Genomes	NC_000016.9 - 89985844	Oct 12, 2018 (152)
114	1000Genomes_30x	NC_000016.10 - 89919436	Oct 16, 2022 (156)
115	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 89985844	Oct 12, 2018 (152)
116	Genetic variation in the Estonian population	NC_000016.9 - 89985844	Oct 12, 2018 (152)
117	ExAC	NC_000016.9 - 89985844	Oct 12, 2018 (152)
118	FINRISK	NC_000016.9 - 89985844	Apr 27, 2020 (154)
119	The Danish reference pan genome	NC_000016.9 - 89985844	Apr 27, 2020 (154)
120	gnomAD - Genomes	NC_000016.10 - 89919436	Apr 27, 2021 (155)
121	gnomAD - Exomes	NC_000016.9 - 89985844	Jul 13, 2019 (153)
122	Genome of the Netherlands Release 5	NC_000016.9 - 89985844	Apr 27, 2020 (154)
123	HapMap	NC_000016.10 - 89919436	Apr 27, 2020 (154)
124	Medical Genome Project healthy controls from Spanish population	NC_000016.9 - 89985844	Apr 27, 2020 (154)
125	Northern Sweden	NC_000016.9 - 89985844	Jul 13, 2019 (153)
126	The PAGE Study	NC_000016.10 - 89919436	Jul 13, 2019 (153)
127	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000016.9 - 89985844	Apr 27, 2021 (155)
128	CNV burdens in cranial meningiomas	NC_000016.9 - 89985844	Apr 27, 2021 (155)
129	Qatari	NC_000016.9 - 89985844	Apr 27, 2020 (154)
130	SGDP_PRJ	NC_000016.9 - 89985844	Apr 27, 2020 (154)
131	TopMed	NC_000016.10 - 89919436	Apr 27, 2021 (155)
132	UK 10K study - Twins	NC_000016.9 - 89985844	Oct 12, 2018 (152)
133	ALFA	NC_000016.10 - 89919436	Apr 27, 2021 (155)
134	ClinVar	RCV000015384.30	Oct 16, 2022 (156)
135	ClinVar	RCV000242490.2	Oct 16, 2022 (156)
136	ClinVar	RCV000276119.8	Oct 16, 2022 (156)
137	ClinVar	RCV001269496.2	Oct 16, 2022 (156)
138	ClinVar	RCV001650834.3	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss90500879, ss171740719, ss287131166, ss480301591, ss491725581, ss1696872304, ss2635067378, ss3643123674	NC_000016.8:88513344:G:T	NC_000016.10:89919435:G:T	(self)
70762785, 39253498, 27757429, 2907858, 98869, 4258189, 11564104, 17497971, 557112, 15076819, 1002227, 267807, 18314892, 37153824, 39253498, ss237150927, ss480312680, ss481068738, ss484948596, ss491513788, ss535641755, ss565112649, ss713334818, ss778467886, ss782920605, ss783883616, ss832175732, ss833923645, ss974496524, ss992830724, ss1067565419, ss1080869834, ss1357561422, ss1578051493, ss1584102408, ss1635117229, ss1678111262, ss1692487403, ss1711441352, ss1752213129, ss1936272970, ss1959711628, ss2028926292, ss2095070732, ss2633363334, ss2710841614, ss2742271234, ss2749635748, ss2946702181, ss2985080441, ss3015041384, ss3021742082, ss3351606486, ss3627602933, ss3631346728, ss3633132160, ss3633838988, ss3634658677, ss3635527014, ss3636350091, ss3637278508, ss3638143980, ss3640365997, ss3646500354, ss3652154479, ss3652154480, ss3653852538, ss3682019181, ss3741791954, ss3744959040, ss3754343113, ss3772457146, ss3825053855, ss3825887446, ss3834732213, ss3885136844, ss3984102667, ss3984718268, ss3985776300, ss3986703902, ss4017752225, ss5237570265, ss5425824589, ss5624066458, ss5624389589, ss5659545413, ss5799967743, ss5846860249, ss5847469286, ss5847783819, ss5848435438, ss5950960226, ss5979496595	NC_000016.9:89985843:G:T	NC_000016.10:89919435:G:T	(self)
RCV000015384.30, RCV000242490.2, RCV000276119.8, RCV001269496.2, RCV001650834.3, 92855276, 498997268, 1443713, 1125011, 242168289, 9763307655, ss244239411, ss275515490, ss2214824147, ss3699905738, ss3725591480, ss3771903542, ss3819613400, ss5026622628, ss5237667443, ss5302107342, ss5495328302, ss5605329341, ss5900402850	NC_000016.10:89919435:G:T	NC_000016.10:89919435:G:T	(self)
ss2425918, ss3173165, ss4193878, ss4472754, ss40641735, ss48295618, ss48410327, ss74908842, ss119404117, ss136889282, ss160463237, ss172926356, ss244285161	NT_010542.15:1546460:G:T	NC_000016.10:89919435:G:T	(self)

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

21 citations for rs1805005

PMID	Title	Author	Year	Journal
9302268	Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.	Box NF et al.	1997	Human molecular genetics
10631149	Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?	Palmer JS et al.	2000	American journal of human genetics
16595073	Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.	Savas S et al.	2006	Human genomics
16601669	Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population.	Stratigos AJ et al.	2006	The Journal of investigative dermatology
17616515	Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.	Beaumont KA et al.	2007	Human molecular genetics
17999355	A genomewide association study of skin pigmentation in a South Asian population.	Stokowski RP et al.	2007	American journal of human genetics
19585506	Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.	Scherer D et al.	2009	International journal of cancer
19710684	Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.	Duffy DL et al.	2010	The Journal of investigative dermatology
20042077	Genetic determinants of hair and eye colours in the Scottish and Danish populations.	Mengel-From J et al.	2009	BMC genetics
20158590	Predicting phenotype from genotype: normal pigmentation.	Valenzuela RK et al.	2010	Journal of forensic sciences
20670983	The Multiple Sclerosis Severity Score: associations with MC1R single nucleotide polymorphisms and host response to ultraviolet radiation.	Strange RC et al.	2010	Multiple sclerosis (Houndmills, Basingstoke, England)
21128237	Melanocortin 1 receptor and risk of cutaneous melanoma: a meta-analysis and estimates of population burden.	Williams PF et al.	2011	International journal of cancer
21197618	Model-based prediction of human hair color using DNA variants.	Branicki W et al.	2011	Human genetics
22277159	Implications for health and disease in the genetic signature of the Ashkenazi Jewish population.	Guha S et al.	2012	Genome biology
22629401	Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D.	Berry DJ et al.	2012	PloS one
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
25945350	Variants of SCARB1 and VDR Involved in Complex Genetic Interactions May Be Implicated in the Genetic Susceptibility to Clear Cell Renal Cell Carcinoma.	Pośpiech E et al.	2015	BioMed research international
26547235	Crowdsourced direct-to-consumer genomic analysis of a family quartet.	Corpas M et al.	2015	BMC genomics
30657907	A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.	Zorina-Lichtenwalter K et al.	2019	Human molecular genetics
34168679	Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia.	Alharazy S et al.	2021	Frontiers in genetics
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
Top▲ Help
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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1805005