Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs6119471

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:34197406 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.189399 (50132/264690, TOPMED)
G=0.178901 (25063/140094, GnomAD)
G=0.27970 (21997/78646, PAGE_STUDY) (+ 10 more)
G=0.11087 (1553/14008, ALFA)
G=0.2019 (1293/6404, 1000G_30x)
G=0.1909 (956/5008, 1000G)
G=0.0010 (4/3854, ALSPAC)
G=0.0013 (5/3708, TWINSUK)
G=0.001 (1/998, GoNL)
G=0.265 (87/328, HapMap)
G=0.097 (21/216, Qatari)
G=0.00 (0/90, Ancient Sardinia)
C=0.23 (14/62, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ASIP : Intron Variant
Publications
2 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 14008 C=0.88913 A=0.00000, G=0.11087
European Sub 9822 C=0.9988 A=0.0000, G=0.0012
African Sub 2538 C=0.4535 A=0.0000, G=0.5465
African Others Sub 94 C=0.36 A=0.00, G=0.64
African American Sub 2444 C=0.4570 A=0.0000, G=0.5430
Asian Sub 112 C=1.000 A=0.000, G=0.000
East Asian Sub 86 C=1.00 A=0.00, G=0.00
Other Asian Sub 26 C=1.00 A=0.00, G=0.00
Latin American 1 Sub 146 C=0.836 A=0.000, G=0.164
Latin American 2 Sub 610 C=0.959 A=0.000, G=0.041
South Asian Sub 98 C=1.00 A=0.00, G=0.00
Other Sub 682 C=0.846 A=0.000, G=0.154


Help

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 C=0.810601 G=0.189399
gnomAD - Genomes Global Study-wide 140094 C=0.821099 G=0.178901
gnomAD - Genomes European Sub 75932 C=0.99845 G=0.00155
gnomAD - Genomes African Sub 41898 C=0.43255 G=0.56745
gnomAD - Genomes American Sub 13658 C=0.93696 G=0.06304
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9958 G=0.0042
gnomAD - Genomes East Asian Sub 3134 C=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2150 C=0.8628 G=0.1372
The PAGE Study Global Study-wide 78646 C=0.72030 G=0.27970
The PAGE Study AfricanAmerican Sub 32488 C=0.43939 G=0.56061
The PAGE Study Mexican Sub 10804 C=0.97112 G=0.02888
The PAGE Study Asian Sub 8314 C=0.9993 G=0.0007
The PAGE Study PuertoRican Sub 7910 C=0.8173 G=0.1827
The PAGE Study NativeHawaiian Sub 4534 C=0.9923 G=0.0077
The PAGE Study Cuban Sub 4228 C=0.9044 G=0.0956
The PAGE Study Dominican Sub 3826 C=0.7146 G=0.2854
The PAGE Study CentralAmerican Sub 2446 C=0.8937 G=0.1063
The PAGE Study SouthAmerican Sub 1980 C=0.9465 G=0.0535
The PAGE Study NativeAmerican Sub 1260 C=0.9032 G=0.0968
The PAGE Study SouthAsian Sub 856 C=0.998 G=0.002
Allele Frequency Aggregator Total Global 14008 C=0.88913 A=0.00000, G=0.11087
Allele Frequency Aggregator European Sub 9822 C=0.9988 A=0.0000, G=0.0012
Allele Frequency Aggregator African Sub 2538 C=0.4535 A=0.0000, G=0.5465
Allele Frequency Aggregator Other Sub 682 C=0.846 A=0.000, G=0.154
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.959 A=0.000, G=0.041
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.836 A=0.000, G=0.164
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, G=0.00
1000Genomes_30x Global Study-wide 6404 C=0.7981 G=0.2019
1000Genomes_30x African Sub 1786 C=0.3135 G=0.6865
1000Genomes_30x Europe Sub 1266 C=0.9992 G=0.0008
1000Genomes_30x South Asian Sub 1202 C=1.0000 G=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 G=0.0000
1000Genomes_30x American Sub 980 C=0.933 G=0.067
1000Genomes Global Study-wide 5008 C=0.8091 G=0.1909
1000Genomes African Sub 1322 C=0.3139 G=0.6861
1000Genomes East Asian Sub 1008 C=1.0000 G=0.0000
1000Genomes Europe Sub 1006 C=0.9990 G=0.0010
1000Genomes South Asian Sub 978 C=1.000 G=0.000
1000Genomes American Sub 694 C=0.931 G=0.069
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9990 G=0.0010
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9987 G=0.0013
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.999 G=0.001
HapMap Global Study-wide 328 C=0.735 G=0.265
HapMap African Sub 120 C=0.275 G=0.725
HapMap American Sub 120 C=1.000 G=0.000
HapMap Asian Sub 88 C=1.00 G=0.00
Qatari Global Study-wide 216 C=0.903 G=0.097
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 90 C=1.00 G=0.00
SGDP_PRJ Global Study-wide 62 C=0.23 G=0.77
Help

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 20 NC_000020.11:g.34197406C>A
GRCh38.p14 chr 20 NC_000020.11:g.34197406C>G
GRCh37.p13 chr 20 NC_000020.10:g.32785212C>A
GRCh37.p13 chr 20 NC_000020.10:g.32785212C>G
Gene: ASIP, agouti signaling protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ASIP transcript variant 2 NM_001385218.1:c.-11+2646…

NM_001385218.1:c.-11+2646C>A

 		N/A Intron Variant
ASIP transcript variant 1 NM_001672.3:c. N/A Genic Upstream Transcript Variant
ASIP transcript variant X2 XM_011528821.1:c.-79+1084…

XM_011528821.1:c.-79+10845C>A

 		N/A Intron Variant
ASIP transcript variant X1 XM_011528820.2:c. N/A Genic Upstream Transcript Variant
Help

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
Help

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 G
GRCh38.p14 chr 20 NC_000020.11:g.34197406= NC_000020.11:g.34197406C>A NC_000020.11:g.34197406C>G
GRCh37.p13 chr 20 NC_000020.10:g.32785212= NC_000020.10:g.32785212C>A NC_000020.10:g.32785212C>G
ASIP transcript variant 2 NM_001385218.1:c.-11+2646= NM_001385218.1:c.-11+2646C>A NM_001385218.1:c.-11+2646C>G
ASIP transcript variant X2 XM_011528821.1:c.-79+10845= XM_011528821.1:c.-79+10845C>A XM_011528821.1:c.-79+10845C>G
Help

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#.

44 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss8447690 Apr 21, 2003 (114)
2 PERLEGEN ss23567041 Sep 20, 2004 (123)
3 AFFY ss65949668 Dec 02, 2006 (127)
4 HGSV ss78515715 Dec 06, 2007 (129)
5 1000GENOMES ss113284226 Jan 25, 2009 (130)
6 ILLUMINA-UK ss117532317 Feb 14, 2009 (130)
7 ILLUMINA ss161067009 Dec 01, 2009 (131)
8 COMPLETE_GENOMICS ss169499578 Jul 04, 2010 (132)
9 BUSHMAN ss203877146 Jul 04, 2010 (132)
10 1000GENOMES ss228333724 Jul 14, 2010 (132)
11 PJP ss292644542 May 09, 2011 (134)
12 ILLUMINA ss479257756 Sep 08, 2015 (146)
13 TISHKOFF ss566224384 Apr 25, 2013 (138)
14 EVA-GONL ss994683650 Aug 21, 2014 (142)
15 JMKIDD_LAB ss1082178163 Aug 21, 2014 (142)
16 1000GENOMES ss1364624777 Aug 21, 2014 (142)
17 EVA_UK10K_ALSPAC ss1638701974 Apr 01, 2015 (144)
18 EVA_UK10K_TWINSUK ss1681696007 Apr 01, 2015 (144)
19 HAMMER_LAB ss1809486001 Sep 08, 2015 (146)
20 WEILL_CORNELL_DGM ss1938197103 Feb 12, 2016 (147)
21 ILLUMINA ss1959911451 Feb 12, 2016 (147)
22 JJLAB ss2029880903 Sep 14, 2016 (149)
23 HUMAN_LONGEVITY ss2242444096 Dec 20, 2016 (150)
24 GNOMAD ss2966998360 Nov 08, 2017 (151)
25 SWEGEN ss3018126354 Nov 08, 2017 (151)
26 ILLUMINA ss3022115066 Nov 08, 2017 (151)
27 ILLUMINA ss3636525831 Oct 12, 2018 (152)
28 ILLUMINA ss3652570078 Oct 12, 2018 (152)
29 EVA_DECODE ss3706873952 Jul 13, 2019 (153)
30 ILLUMINA ss3725911655 Jul 13, 2019 (153)
31 PAGE_CC ss3772045083 Jul 13, 2019 (153)
32 KHV_HUMAN_GENOMES ss3821766102 Jul 13, 2019 (153)
33 EVA ss3835655943 Apr 27, 2020 (154)
34 SGDP_PRJ ss3889028081 Apr 27, 2020 (154)
35 EVA ss3985876782 Apr 26, 2021 (155)
36 TOPMED ss5087310739 Apr 26, 2021 (155)
37 1000G_HIGH_COVERAGE ss5308670387 Oct 13, 2022 (156)
38 EVA ss5437165750 Oct 13, 2022 (156)
39 HUGCELL_USP ss5500960215 Oct 13, 2022 (156)
40 EVA ss5512205697 Oct 13, 2022 (156)
41 1000G_HIGH_COVERAGE ss5615067948 Oct 13, 2022 (156)
42 SANFORD_IMAGENETICS ss5663145772 Oct 13, 2022 (156)
43 EVA ss5923277995 Oct 13, 2022 (156)
44 EVA ss5958055046 Oct 13, 2022 (156)
45 1000Genomes NC_000020.10 - 32785212 Oct 12, 2018 (152)
46 1000Genomes_30x NC_000020.11 - 34197406 Oct 13, 2022 (156)
47 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 32785212 Oct 12, 2018 (152)
48 gnomAD - Genomes NC_000020.11 - 34197406 Apr 26, 2021 (155)
49 Genome of the Netherlands Release 5 NC_000020.10 - 32785212 Apr 27, 2020 (154)
50 HapMap NC_000020.11 - 34197406 Apr 27, 2020 (154)
51 The PAGE Study NC_000020.11 - 34197406 Jul 13, 2019 (153)
52 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000020.10 - 32785212 Apr 26, 2021 (155)
53 Qatari NC_000020.10 - 32785212 Apr 27, 2020 (154)
54 SGDP_PRJ NC_000020.10 - 32785212 Apr 27, 2020 (154)
55 TopMed NC_000020.11 - 34197406 Apr 26, 2021 (155)
56 UK 10K study - Twins NC_000020.10 - 32785212 Oct 12, 2018 (152)
57 ALFA NC_000020.11 - 34197406 Apr 26, 2021 (155)
Help

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
4143614436 NC_000020.11:34197405:C:A NC_000020.11:34197405:C:A (self)
ss78515715, ss113284226, ss117532317, ss161067009, ss169499578, ss203877146, ss292644542 NC_000020.9:32248872:C:G NC_000020.11:34197405:C:G (self)
78082960, 43221893, 19258033, 1102709, 20239025, 41045061, 43221893, ss228333724, ss479257756, ss566224384, ss994683650, ss1082178163, ss1364624777, ss1638701974, ss1681696007, ss1809486001, ss1938197103, ss1959911451, ss2029880903, ss2966998360, ss3018126354, ss3022115066, ss3636525831, ss3652570078, ss3835655943, ss3889028081, ss3985876782, ss5437165750, ss5512205697, ss5663145772, ss5958055046 NC_000020.10:32785211:C:G NC_000020.11:34197405:C:G (self)
102593883, 550774485, 2110749, 1266552, 362419684, 4143614436, ss2242444096, ss3706873952, ss3725911655, ss3772045083, ss3821766102, ss5087310739, ss5308670387, ss5500960215, ss5615067948, ss5923277995 NC_000020.11:34197405:C:G NC_000020.11:34197405:C:G (self)
ss23567041, ss65949668 NT_011362.10:2981303:C:G NC_000020.11:34197405:C:G (self)
ss8447690 NT_028392.4:2951979:C:G NC_000020.11:34197405:C:G (self)
Help

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

2 citations for rs6119471
PMID Title Author Year Journal
23771755 Improved eye- and skin-color prediction based on 8 SNPs. Hart KL et al. 2013 Croatian medical journal
26690364 Genetic differences among ethnic groups. Huang T et al. 2015 BMC genomics
Help

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.

Software version is: 2.0.1.post761+d5e8e07