Name: rs1805008
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.

rs1805008

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:89919736 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.041210 (10908/264690, TOPMED)
T=0.047166 (11354/240724, GnomAD_exome)
T=0.062475 (13848/221658, ALFA) (+ 21 more)
T=0.048505 (6805/140294, GnomAD)
T=0.050275 (5960/118548, ExAC)
T=0.01236 (970/78500, PAGE_STUDY)
T=0.00007 (2/28252, 14KJPN)
T=0.00006 (1/16754, 8.3KJPN)
T=0.0145 (93/6404, 1000G_30x)
T=0.0146 (73/5008, 1000G)
T=0.0828 (371/4480, Estonian)
T=0.0926 (357/3854, ALSPAC)
T=0.0890 (330/3708, TWINSUK)
T=0.0308 (49/1592, HapMap)
T=0.088 (88/998, GoNL)
T=0.001 (1/792, PRJEB37584)
T=0.123 (74/600, NorthernSweden)
T=0.004 (2/534, MGP)
T=0.059 (18/304, FINRISK)
T=0.000 (0/102, Ancient Sardinia)
T=0.10 (4/40, GENOME_DK)
C=0.36 (5/14, SGDP_PRJ)
C=0.5 (4/8, Siberian)
T=0.5 (4/8, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: MC1R : Missense Variant
Publications: 32 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	221802	C=0.937507	T=0.062493
European	Sub	186450	C=0.931617	T=0.068383
African	Sub	7806	C=0.9826	T=0.0174
African Others	Sub	252	C=0.996	T=0.004
African American	Sub	7554	C=0.9821	T=0.0179
Asian	Sub	3654	C=0.9992	T=0.0008
East Asian	Sub	2318	C=0.9991	T=0.0009
Other Asian	Sub	1336	C=0.9993	T=0.0007
Latin American 1	Sub	740	C=0.988	T=0.012
Latin American 2	Sub	6310	C=0.9883	T=0.0117
South Asian	Sub	190	C=0.974	T=0.026
Other	Sub	16652	C=0.94691	T=0.05309

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
TopMed	Global	Study-wide	264690	C=0.958790	T=0.041210
gnomAD - Exomes	Global	Study-wide	240724	C=0.952834	T=0.047166
gnomAD - Exomes	European	Sub	126670	C=0.921978	T=0.078022
gnomAD - Exomes	Asian	Sub	48452	C=0.99668	T=0.00332
gnomAD - Exomes	American	Sub	34450	C=0.99181	T=0.00819
gnomAD - Exomes	African	Sub	15238	C=0.98707	T=0.01293
gnomAD - Exomes	Ashkenazi Jewish	Sub	9966	C=0.9421	T=0.0579
gnomAD - Exomes	Other	Sub	5948	C=0.9573	T=0.0427
Allele Frequency Aggregator	Total	Global	221658	C=0.937525	T=0.062475
Allele Frequency Aggregator	European	Sub	186328	C=0.931631	T=0.068369
Allele Frequency Aggregator	Other	Sub	16644	C=0.94701	T=0.05299
Allele Frequency Aggregator	African	Sub	7792	C=0.9825	T=0.0175
Allele Frequency Aggregator	Latin American 2	Sub	6310	C=0.9883	T=0.0117
Allele Frequency Aggregator	Asian	Sub	3654	C=0.9992	T=0.0008
Allele Frequency Aggregator	Latin American 1	Sub	740	C=0.988	T=0.012
Allele Frequency Aggregator	South Asian	Sub	190	C=0.974	T=0.026
gnomAD - Genomes	Global	Study-wide	140294	C=0.951495	T=0.048505
gnomAD - Genomes	European	Sub	75954	C=0.92419	T=0.07581
gnomAD - Genomes	African	Sub	42070	C=0.98595	T=0.01405
gnomAD - Genomes	American	Sub	13664	C=0.98631	T=0.01369
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.9389	T=0.0611
gnomAD - Genomes	East Asian	Sub	3130	C=0.9997	T=0.0003
gnomAD - Genomes	Other	Sub	2154	C=0.9698	T=0.0302
ExAC	Global	Study-wide	118548	C=0.949725	T=0.050275
ExAC	Europe	Sub	71664	C=0.92124	T=0.07876
ExAC	Asian	Sub	24988	C=0.99628	T=0.00372
ExAC	American	Sub	11486	C=0.99373	T=0.00627
ExAC	African	Sub	9532	C=0.9875	T=0.0125
ExAC	Other	Sub	878	C=0.964	T=0.036
The PAGE Study	Global	Study-wide	78500	C=0.98764	T=0.01236
The PAGE Study	AfricanAmerican	Sub	32360	C=0.98461	T=0.01539
The PAGE Study	Mexican	Sub	10810	C=0.99056	T=0.00944
The PAGE Study	Asian	Sub	8302	C=1.0000	T=0.0000
The PAGE Study	PuertoRican	Sub	7916	C=0.9862	T=0.0138
The PAGE Study	NativeHawaiian	Sub	4512	C=0.9858	T=0.0142
The PAGE Study	Cuban	Sub	4228	C=0.9858	T=0.0142
The PAGE Study	Dominican	Sub	3826	C=0.9935	T=0.0065
The PAGE Study	CentralAmerican	Sub	2448	C=0.9877	T=0.0123
The PAGE Study	SouthAmerican	Sub	1982	C=0.9904	T=0.0096
The PAGE Study	NativeAmerican	Sub	1260	C=0.9524	T=0.0476
The PAGE Study	SouthAsian	Sub	856	C=0.996	T=0.004
14KJPN	JAPANESE	Study-wide	28252	C=0.99993	T=0.00007
8.3KJPN	JAPANESE	Study-wide	16754	C=0.99994	T=0.00006
1000Genomes_30x	Global	Study-wide	6404	C=0.9855	T=0.0145
1000Genomes_30x	African	Sub	1786	C=0.9972	T=0.0028
1000Genomes_30x	Europe	Sub	1266	C=0.9368	T=0.0632
1000Genomes_30x	South Asian	Sub	1202	C=0.9958	T=0.0042
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=0.997	T=0.003
1000Genomes	Global	Study-wide	5008	C=0.9854	T=0.0146
1000Genomes	African	Sub	1322	C=0.9962	T=0.0038
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9384	T=0.0616
1000Genomes	South Asian	Sub	978	C=0.996	T=0.004
1000Genomes	American	Sub	694	C=0.997	T=0.003
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9172	T=0.0828
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9074	T=0.0926
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9110	T=0.0890
HapMap	Global	Study-wide	1592	C=0.9692	T=0.0308
HapMap	American	Sub	762	C=0.951	T=0.049
HapMap	African	Sub	404	C=0.993	T=0.007
HapMap	Asian	Sub	250	C=0.992	T=0.008
HapMap	Europe	Sub	176	C=0.960	T=0.040
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.912	T=0.088
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.999	T=0.001
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.999	T=0.001
Northern Sweden	ACPOP	Study-wide	600	C=0.877	T=0.123
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.996	T=0.004
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.941	T=0.059
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	102	C=1.000	T=0.000
The Danish reference pan genome	Danish	Study-wide	40	C=0.90	T=0.10
SGDP_PRJ	Global	Study-wide	14	C=0.36	T=0.64
Siberian	Global	Study-wide	8	C=0.5	T=0.5

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.89919736C>T
GRCh37.p13 chr 16	NC_000016.9:g.89986144C>T
TUBB3 RefSeqGene	NG_027810.1:g.2728C>T
MC1R RefSeqGene	NG_012026.1:g.6858C>T

Gene: MC1R, melanocortin 1 receptor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MC1R transcript	NM_002386.4:c.478C>T	R [CGG] > W [TGG]	Coding Sequence Variant
melanocyte-stimulating hormone receptor	NP_002377.4:p.Arg160Trp	R (Arg) > W (Trp)	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: T (allele ID: 29349 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000015381.33	Skin/hair/eye pigmentation 2, red hair/fair skin	Association
RCV000015382.28	Increased analgesia from kappa-opioid receptor agonist, female-specific	Affects
RCV000015383.29	OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF	Risk-Factor
RCV000244718.2	not specified	Likely-Benign
RCV000255906.3	not provided	Pathogenic
RCV000356300.8	Melanoma, cutaneous malignant, susceptibility to, 5	Benign-Likely-Benign
RCV001281076.2	Malignant tumor of breast	Likely-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=	T
GRCh38.p14 chr 16	NC_000016.10:g.89919736=	NC_000016.10:g.89919736C>T
GRCh37.p13 chr 16	NC_000016.9:g.89986144=	NC_000016.9:g.89986144C>T
TUBB3 RefSeqGene	NG_027810.1:g.2728=	NG_027810.1:g.2728C>T
MC1R RefSeqGene	NG_012026.1:g.6858=	NG_012026.1:g.6858C>T
MC1R transcript	NM_002386.4:c.478=	NM_002386.4:c.478C>T
MC1R transcript	NM_002386.3:c.478=	NM_002386.3:c.478C>T
melanocyte-stimulating hormone receptor	NP_002377.4:p.Arg160=	NP_002377.4:p.Arg160Trp

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#.

110 SubSNP, 23 Frequency, 7 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	PGA-UW-FHCRC	ss4472758	Jul 03, 2002 (110)
2	SNP500CANCER	ss48295621	Mar 13, 2006 (126)
3	APPLERA_GI	ss48410319	Mar 13, 2006 (126)
4	PERLEGEN	ss69355433	May 18, 2007 (127)
5	ILLUMINA	ss74883942	Dec 06, 2007 (129)
6	KRIBB_YJKIM	ss119404118	Dec 01, 2009 (131)
7	ILLUMINA	ss160463239	Dec 01, 2009 (131)
8	ILLUMINA	ss172926364	Jul 04, 2010 (132)
9	1000GENOMES	ss237150930	Jul 15, 2010 (132)
10	OMICIA	ss244239410	May 27, 2010 (132)
11	ILLUMINA	ss244285163	Jul 04, 2010 (132)
12	OMIM-CURATED-RECORDS	ss275515489	Nov 24, 2010 (133)
13	ILLUMINA	ss480301599	May 04, 2012 (137)
14	ILLUMINA	ss480312687	May 04, 2012 (137)
15	ILLUMINA	ss481068746	Sep 08, 2015 (146)
16	ILLUMINA	ss484948600	May 04, 2012 (137)
17	EXOME_CHIP	ss491513805	May 04, 2012 (137)
18	CLINSEQ_SNP	ss491725593	May 04, 2012 (137)
19	ILLUMINA	ss536992642	Sep 08, 2015 (146)
20	NHLBI-ESP	ss713334841	Apr 25, 2013 (138)
21	ILLUMINA	ss778841604	Aug 21, 2014 (142)
22	ILLUMINA	ss780722558	Sep 08, 2015 (146)
23	ILLUMINA	ss782920607	Sep 08, 2015 (146)
24	ILLUMINA	ss783398386	Sep 08, 2015 (146)
25	ILLUMINA	ss783883618	Aug 21, 2014 (142)
26	ILLUMINA	ss832175734	Sep 08, 2015 (146)
27	ILLUMINA	ss834302162	Aug 21, 2014 (142)
28	EVA-GONL	ss992830732	Aug 21, 2014 (142)
29	1000GENOMES	ss1357561455	Aug 21, 2014 (142)
30	EVA_GENOME_DK	ss1578051494	Apr 01, 2015 (144)
31	EVA_FINRISK	ss1584102414	Apr 01, 2015 (144)
32	EVA_UK10K_ALSPAC	ss1635117243	Apr 01, 2015 (144)
33	EVA_UK10K_TWINSUK	ss1678111276	Apr 01, 2015 (144)
34	EVA_EXAC	ss1692487501	Apr 01, 2015 (144)
35	EVA_MGP	ss1711441357	Apr 01, 2015 (144)
36	ILLUMINA	ss1752213142	Sep 08, 2015 (146)
37	ILLUMINA	ss1752213143	Sep 08, 2015 (146)
38	ILLUMINA	ss1917911993	Feb 12, 2016 (147)
39	ILLUMINA	ss1946424254	Feb 12, 2016 (147)
40	ILLUMINA	ss1959711643	Feb 12, 2016 (147)
41	JJLAB	ss2028926298	Sep 14, 2016 (149)
42	ILLUMINA	ss2095070738	Dec 20, 2016 (150)
43	USC_VALOUEV	ss2157367879	Dec 20, 2016 (150)
44	HUMAN_LONGEVITY	ss2214824195	Dec 20, 2016 (150)
45	ILLUMINA	ss2633363343	Nov 08, 2017 (151)
46	GNOMAD	ss2742271371	Nov 08, 2017 (151)
47	GNOMAD	ss2749635808	Nov 08, 2017 (151)
48	GNOMAD	ss2946702241	Nov 08, 2017 (151)
49	AFFY	ss2985080457	Nov 08, 2017 (151)
50	SWEGEN	ss3015041398	Nov 08, 2017 (151)
51	ILLUMINA	ss3021742098	Nov 08, 2017 (151)
52	CSHL	ss3351606491	Nov 08, 2017 (151)
53	ILLUMINA	ss3625702176	Oct 12, 2018 (152)
54	ILLUMINA	ss3627602955	Oct 12, 2018 (152)
55	ILLUMINA	ss3627602956	Oct 12, 2018 (152)
56	ILLUMINA	ss3631346738	Oct 12, 2018 (152)
57	ILLUMINA	ss3633838992	Oct 12, 2018 (152)
58	ILLUMINA	ss3634658692	Oct 12, 2018 (152)
59	ILLUMINA	ss3634658693	Oct 12, 2018 (152)
60	ILLUMINA	ss3635527017	Oct 12, 2018 (152)
61	ILLUMINA	ss3636350096	Oct 12, 2018 (152)
62	ILLUMINA	ss3637278512	Oct 12, 2018 (152)
63	ILLUMINA	ss3638143984	Oct 12, 2018 (152)
64	ILLUMINA	ss3640366012	Oct 12, 2018 (152)
65	ILLUMINA	ss3640366013	Oct 12, 2018 (152)
66	ILLUMINA	ss3643123678	Oct 12, 2018 (152)
67	ILLUMINA	ss3644677335	Oct 12, 2018 (152)
68	ILLUMINA	ss3652154500	Oct 12, 2018 (152)
69	ILLUMINA	ss3652154501	Oct 12, 2018 (152)
70	ILLUMINA	ss3653852554	Oct 12, 2018 (152)
71	EGCUT_WGS	ss3682019199	Jul 13, 2019 (153)
72	EVA_DECODE	ss3699905750	Jul 13, 2019 (153)
73	ILLUMINA	ss3725591494	Jul 13, 2019 (153)
74	ACPOP	ss3741791960	Jul 13, 2019 (153)
75	ILLUMINA	ss3744436942	Jul 13, 2019 (153)
76	ILLUMINA	ss3744959055	Jul 13, 2019 (153)
77	ILLUMINA	ss3744959056	Jul 13, 2019 (153)
78	EVA	ss3754343127	Jul 13, 2019 (153)
79	PAGE_CC	ss3771903556	Jul 13, 2019 (153)
80	ILLUMINA	ss3772457159	Jul 13, 2019 (153)
81	ILLUMINA	ss3772457160	Jul 13, 2019 (153)
82	EVA	ss3825053895	Apr 27, 2020 (154)
83	EVA	ss3834732217	Apr 27, 2020 (154)
84	SGDP_PRJ	ss3885136856	Apr 27, 2020 (154)
85	NORTHRUP_AU	ss3983909055	Apr 27, 2021 (155)
86	EVA	ss3984718275	Apr 27, 2021 (155)
87	EVA	ss3985776306	Apr 27, 2021 (155)
88	EVA	ss3986703910	Apr 27, 2021 (155)
89	EVA	ss4017752227	Apr 27, 2021 (155)
90	TOPMED	ss5026622770	Apr 27, 2021 (155)
91	TOMMO_GENOMICS	ss5221067072	Apr 27, 2021 (155)
92	EVA	ss5237570269	Apr 27, 2021 (155)
93	EVA	ss5237667452	Oct 16, 2022 (156)
94	1000G_HIGH_COVERAGE	ss5302107360	Oct 16, 2022 (156)
95	EVA	ss5425824629	Oct 16, 2022 (156)
96	HUGCELL_USP	ss5495328322	Oct 16, 2022 (156)
97	EVA	ss5511703768	Oct 16, 2022 (156)
98	1000G_HIGH_COVERAGE	ss5605329376	Oct 16, 2022 (156)
99	EVA	ss5624066459	Oct 16, 2022 (156)
100	SANFORD_IMAGENETICS	ss5624389592	Oct 16, 2022 (156)
101	SANFORD_IMAGENETICS	ss5659545425	Oct 16, 2022 (156)
102	TOMMO_GENOMICS	ss5776520274	Oct 16, 2022 (156)
103	EVA	ss5799967745	Oct 16, 2022 (156)
104	EVA	ss5800070094	Oct 16, 2022 (156)
105	EVA	ss5846860264	Oct 16, 2022 (156)
106	EVA	ss5847783834	Oct 16, 2022 (156)
107	EVA	ss5848435445	Oct 16, 2022 (156)
108	EVA	ss5900402882	Oct 16, 2022 (156)
109	EVA	ss5950960244	Oct 16, 2022 (156)
110	EVA	ss5979496603	Oct 16, 2022 (156)
111	1000Genomes	NC_000016.9 - 89986144	Oct 12, 2018 (152)
112	1000Genomes_30x	NC_000016.10 - 89919736	Oct 16, 2022 (156)
113	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 89986144	Oct 12, 2018 (152)
114	Genetic variation in the Estonian population	NC_000016.9 - 89986144	Oct 12, 2018 (152)
115	ExAC	NC_000016.9 - 89986144	Oct 12, 2018 (152)
116	FINRISK	NC_000016.9 - 89986144	Apr 27, 2020 (154)
117	The Danish reference pan genome	NC_000016.9 - 89986144	Apr 27, 2020 (154)
118	gnomAD - Genomes	NC_000016.10 - 89919736	Apr 27, 2021 (155)
119	gnomAD - Exomes	NC_000016.9 - 89986144	Jul 13, 2019 (153)
120	Genome of the Netherlands Release 5	NC_000016.9 - 89986144	Apr 27, 2020 (154)
121	HapMap	NC_000016.10 - 89919736	Apr 27, 2020 (154)
122	Medical Genome Project healthy controls from Spanish population	NC_000016.9 - 89986144	Apr 27, 2020 (154)
123	Northern Sweden	NC_000016.9 - 89986144	Jul 13, 2019 (153)
124	The PAGE Study	NC_000016.10 - 89919736	Jul 13, 2019 (153)
125	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000016.9 - 89986144	Apr 27, 2021 (155)
126	CNV burdens in cranial meningiomas	NC_000016.9 - 89986144	Apr 27, 2021 (155)
127	SGDP_PRJ	NC_000016.9 - 89986144	Apr 27, 2020 (154)
128	Siberian	NC_000016.9 - 89986144	Apr 27, 2020 (154)
129	8.3KJPN	NC_000016.9 - 89986144	Apr 27, 2021 (155)
130	14KJPN	NC_000016.10 - 89919736	Oct 16, 2022 (156)
131	TopMed	NC_000016.10 - 89919736	Apr 27, 2021 (155)
132	UK 10K study - Twins	NC_000016.9 - 89986144	Oct 12, 2018 (152)
133	ALFA	NC_000016.10 - 89919736	Apr 27, 2021 (155)
134	ClinVar	RCV000015381.33	Oct 16, 2022 (156)
135	ClinVar	RCV000015382.28	Oct 16, 2022 (156)
136	ClinVar	RCV000015383.29	Oct 16, 2022 (156)
137	ClinVar	RCV000244718.2	Oct 16, 2022 (156)
138	ClinVar	RCV000255906.3	Oct 16, 2022 (156)
139	ClinVar	RCV000356300.8	Oct 16, 2022 (156)
140	ClinVar	RCV001281076.2	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)
rs3212382	Dec 16, 2002 (110)
rs386545682	Aug 06, 2014 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss480301599, ss491725593, ss3643123678	NC_000016.8:88513644:C:T	NC_000016.10:89919735:C:T	(self)
70762818, 39253512, 27757447, 2907957, 98875, 4258190, 11564255, 17497979, 557117, 15076825, 1002233, 267814, 37153836, 9884233, 79036379, 39253512, ss237150930, ss480312687, ss481068746, ss484948600, ss491513805, ss536992642, ss713334841, ss778841604, ss780722558, ss782920607, ss783398386, ss783883618, ss832175734, ss834302162, ss992830732, ss1357561455, ss1578051494, ss1584102414, ss1635117243, ss1678111276, ss1692487501, ss1711441357, ss1752213142, ss1752213143, ss1917911993, ss1946424254, ss1959711643, ss2028926298, ss2095070738, ss2157367879, ss2633363343, ss2742271371, ss2749635808, ss2946702241, ss2985080457, ss3015041398, ss3021742098, ss3351606491, ss3625702176, ss3627602955, ss3627602956, ss3631346738, ss3633838992, ss3634658692, ss3634658693, ss3635527017, ss3636350096, ss3637278512, ss3638143984, ss3640366012, ss3640366013, ss3644677335, ss3652154500, ss3652154501, ss3653852554, ss3682019199, ss3741791960, ss3744436942, ss3744959055, ss3744959056, ss3754343127, ss3772457159, ss3772457160, ss3825053895, ss3834732217, ss3885136856, ss3983909055, ss3984718275, ss3985776306, ss3986703910, ss4017752227, ss5221067072, ss5237570269, ss5425824629, ss5511703768, ss5624066459, ss5624389592, ss5659545425, ss5799967745, ss5800070094, ss5846860264, ss5847783834, ss5848435445, ss5950960244, ss5979496603	NC_000016.9:89986143:C:T	NC_000016.10:89919735:C:T	(self)
RCV000015381.33, RCV000015382.28, RCV000015383.29, RCV000244718.2, RCV000255906.3, RCV000356300.8, RCV001281076.2, 92855311, 498997385, 1443716, 1125025, 110357378, 242168431, 6754553439, ss244239410, ss275515489, ss2214824195, ss3699905750, ss3725591494, ss3771903556, ss5026622770, ss5237667452, ss5302107360, ss5495328322, ss5605329376, ss5776520274, ss5900402882	NC_000016.10:89919735:C:T	NC_000016.10:89919735:C:T	(self)
ss4472758, ss48295621, ss48410319, ss69355433, ss74883942, ss119404118, ss160463239, ss172926364, ss244285163	NT_010542.15:1546760:C:T	NC_000016.10:89919735:C:T	(self)

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

32 citations for rs1805008

PMID	Title	Author	Year	Journal
9665397	Melanocortin 1 receptor variants in an Irish population.	Smith R et al.	1998	The Journal of investigative dermatology
12876664	MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).	King RA et al.	2003	American journal of human genetics
15994880	Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans.	Mogil JS et al.	2005	Journal of medical genetics
17616515	Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.	Beaumont KA et al.	2007	Human molecular genetics
17952075	Genetic determinants of hair, eye and skin pigmentation in Europeans.	Sulem P et al.	2007	Nature genetics
17999355	A genomewide association study of skin pigmentation in a South Asian population.	Stokowski RP et al.	2007	American journal of human genetics
18392143	Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.	Anno S et al.	2008	International journal of biological sciences
19320745	Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.	Council ML et al.	2009	Experimental dermatology
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
20546537	Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.	Gerstenblith MR et al.	2010	Pigment cell & melanoma research
20585627	Web-based, participant-driven studies yield novel genetic associations for common traits.	Eriksson N et al.	2010	PLoS genetics
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)
21197618	Model-based prediction of human hair color using DNA variants.	Branicki W et al.	2011	Human genetics
21829225	People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population.	Winney B et al.	2012	European journal of human genetics
21926416	Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.	Amos CI et al.	2011	Human molecular genetics
22140526	Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example.	Liu F et al.	2011	PloS one
24086514	Association of polymorphisms in pharmacogenetic candidate genes (OPRD1, GAL, ABCB1, OPRM1) with opioid dependence in European population: a case-control study.	Beer B et al.	2013	PloS one
24439955	Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease.	Dong J et al.	2014	Neurobiology of aging
24809478	Implications of the admixture process in skin color molecular assessment.	Cerqueira CC et al.	2014	PloS one
25631192	The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.	Tell-Marti G et al.	2015	Annals of neurology
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
26389780	Reply.	Tell-Martí G et al.	2016	Annals of neurology
26389967	Is the MC1R variant p.R160W associated with Parkinson's?	Lubbe SJ et al.	2016	Annals of neurology
26547235	Crowdsourced direct-to-consumer genomic analysis of a family quartet.	Corpas M et al.	2015	BMC genomics
28242083	Association of five SNPs with human hair colour in the Polish population.	Siewierska-Górska A et al.	2017	Homo
29518100	Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels.	Nair-Shalliker V et al.	2018	PloS one
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
31612033	The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population.	Ozola A et al.	2019	Oncology letters
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.

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Genomic regions, transcripts, and products
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs1805008