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.

rs7204118

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:71799755 (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>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.130352 (34503/264690, TOPMED)
G=0.137549 (19228/139790, GnomAD)
G=0.00552 (156/28258, 14KJPN) (+ 15 more)
G=0.00537 (90/16760, 8.3KJPN)
G=0.0892 (571/6404, 1000G_30x)
G=0.1896 (966/5094, ALFA)
G=0.0865 (433/5008, 1000G)
G=0.1509 (676/4480, Estonian)
G=0.1588 (612/3854, ALSPAC)
G=0.1691 (627/3708, TWINSUK)
G=0.0147 (43/2930, KOREAN)
G=0.0131 (24/1832, Korea1K)
G=0.160 (96/600, NorthernSweden)
G=0.054 (30/552, SGDP_PRJ)
G=0.190 (41/216, Qatari)
G=0.000 (0/210, Vietnamese)
G=0.12 (7/56, Siberian)
G=0.20 (8/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AP1G1 : Intron Variant
Publications
0 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 5094 G=0.1896 A=0.0000, C=0.8104, T=0.0000
European Sub 4768 G=0.1793 A=0.0000, C=0.8207, T=0.0000
African Sub 114 G=0.623 A=0.000, C=0.377, T=0.000
African Others Sub 0 G=0 A=0, C=0, T=0
African American Sub 114 G=0.623 A=0.000, C=0.377, T=0.000
Asian Sub 0 G=0 A=0, C=0, T=0
East Asian Sub 0 G=0 A=0, C=0, T=0
Other Asian Sub 0 G=0 A=0, C=0, T=0
Latin American 1 Sub 2 G=1.0 A=0.0, C=0.0, T=0.0
Latin American 2 Sub 6 G=1.0 A=0.0, C=0.0, T=0.0
South Asian Sub 0 G=0 A=0, C=0, T=0
Other Sub 204 G=0.157 A=0.000, C=0.843, T=0.000


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 G=0.130352 C=0.869648
gnomAD - Genomes Global Study-wide 139790 G=0.137549 C=0.862451
gnomAD - Genomes European Sub 75806 G=0.15190 C=0.84810
gnomAD - Genomes African Sub 41802 G=0.14538 C=0.85462
gnomAD - Genomes American Sub 13588 G=0.08191 C=0.91809
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.0744 C=0.9256
gnomAD - Genomes East Asian Sub 3128 G=0.0061 C=0.9939
gnomAD - Genomes Other Sub 2144 G=0.1199 C=0.8801
14KJPN JAPANESE Study-wide 28258 G=0.00552 C=0.99448
8.3KJPN JAPANESE Study-wide 16760 G=0.00537 C=0.99463
1000Genomes_30x Global Study-wide 6404 G=0.0892 C=0.9105, T=0.0003
1000Genomes_30x African Sub 1786 G=0.1495 C=0.8505, T=0.0000
1000Genomes_30x Europe Sub 1266 G=0.1548 C=0.8452, T=0.0000
1000Genomes_30x South Asian Sub 1202 G=0.0191 C=0.9809, T=0.0000
1000Genomes_30x East Asian Sub 1170 G=0.0068 C=0.9932, T=0.0000
1000Genomes_30x American Sub 980 G=0.079 C=0.919, T=0.002
Allele Frequency Aggregator Total Global 5094 G=0.1896 A=0.0000, C=0.8104, T=0.0000
Allele Frequency Aggregator European Sub 4768 G=0.1793 A=0.0000, C=0.8207, T=0.0000
Allele Frequency Aggregator Other Sub 204 G=0.157 A=0.000, C=0.843, T=0.000
Allele Frequency Aggregator African Sub 114 G=0.623 A=0.000, C=0.377, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 6 G=1.0 A=0.0, C=0.0, T=0.0
Allele Frequency Aggregator Latin American 1 Sub 2 G=1.0 A=0.0, C=0.0, T=0.0
Allele Frequency Aggregator South Asian Sub 0 G=0 A=0, C=0, T=0
Allele Frequency Aggregator Asian Sub 0 G=0 A=0, C=0, T=0
1000Genomes Global Study-wide 5008 G=0.0865 C=0.9135
1000Genomes African Sub 1322 G=0.1536 C=0.8464
1000Genomes East Asian Sub 1008 G=0.0079 C=0.9921
1000Genomes Europe Sub 1006 G=0.1491 C=0.8509
1000Genomes South Asian Sub 978 G=0.019 C=0.981
1000Genomes American Sub 694 G=0.076 C=0.924
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.1509 C=0.8491
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.1588 C=0.8412
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.1691 C=0.8309
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0147 A=0.0000, C=0.9853, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.0131 C=0.9869
Northern Sweden ACPOP Study-wide 600 G=0.160 C=0.840
SGDP_PRJ Global Study-wide 552 G=0.054 C=0.946
Qatari Global Study-wide 216 G=0.190 C=0.810
A Vietnamese Genetic Variation Database Global Study-wide 210 G=0.000 C=1.000
Siberian Global Study-wide 56 G=0.12 C=0.88
The Danish reference pan genome Danish Study-wide 40 G=0.20 C=0.80
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 16 NC_000016.10:g.71799755G>A
GRCh38.p14 chr 16 NC_000016.10:g.71799755G>C
GRCh38.p14 chr 16 NC_000016.10:g.71799755G>T
GRCh37.p13 chr 16 NC_000016.9:g.71833658G>A
GRCh37.p13 chr 16 NC_000016.9:g.71833658G>C
GRCh37.p13 chr 16 NC_000016.9:g.71833658G>T
Gene: AP1G1, adaptor related protein complex 1 subunit gamma 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
AP1G1 transcript variant 1 NM_001030007.2:c.-4+9008C…

NM_001030007.2:c.-4+9008C>T

 		N/A Intron Variant
AP1G1 transcript variant 2 NM_001128.6:c.-4+9008C>T N/A Intron 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 G= A C T
GRCh38.p14 chr 16 NC_000016.10:g.71799755= NC_000016.10:g.71799755G>A NC_000016.10:g.71799755G>C NC_000016.10:g.71799755G>T
GRCh37.p13 chr 16 NC_000016.9:g.71833658= NC_000016.9:g.71833658G>A NC_000016.9:g.71833658G>C NC_000016.9:g.71833658G>T
AP1G1 transcript variant 1 NM_001030007.1:c.-4+9008= NM_001030007.1:c.-4+9008C>T NM_001030007.1:c.-4+9008C>G NM_001030007.1:c.-4+9008C>A
AP1G1 transcript variant 1 NM_001030007.2:c.-4+9008= NM_001030007.2:c.-4+9008C>T NM_001030007.2:c.-4+9008C>G NM_001030007.2:c.-4+9008C>A
AP1G1 transcript variant 2 NM_001128.5:c.-4+9008= NM_001128.5:c.-4+9008C>T NM_001128.5:c.-4+9008C>G NM_001128.5:c.-4+9008C>A
AP1G1 transcript variant 2 NM_001128.6:c.-4+9008= NM_001128.6:c.-4+9008C>T NM_001128.6:c.-4+9008C>G NM_001128.6:c.-4+9008C>A
AP1G1 transcript variant X1 XM_005255821.1:c.243+8750= XM_005255821.1:c.243+8750C>T XM_005255821.1:c.243+8750C>G XM_005255821.1:c.243+8750C>A
AP1G1 transcript variant X2 XM_005255822.1:c.243+8750= XM_005255822.1:c.243+8750C>T XM_005255822.1:c.243+8750C>G XM_005255822.1:c.243+8750C>A
AP1G1 transcript variant X3 XM_005255823.1:c.66+6931= XM_005255823.1:c.66+6931C>T XM_005255823.1:c.66+6931C>G XM_005255823.1:c.66+6931C>A
AP1G1 transcript variant X4 XM_005255824.1:c.-4+8260= XM_005255824.1:c.-4+8260C>T XM_005255824.1:c.-4+8260C>G XM_005255824.1:c.-4+8260C>A
AP1G1 transcript variant X5 XM_005255825.1:c.-4+8260= XM_005255825.1:c.-4+8260C>T XM_005255825.1:c.-4+8260C>G XM_005255825.1:c.-4+8260C>A
AP1G1 transcript variant X6 XM_005255826.1:c.-4+8046= XM_005255826.1:c.-4+8046C>T XM_005255826.1:c.-4+8046C>G XM_005255826.1:c.-4+8046C>A
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#.

77 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10841065 Jul 11, 2003 (116)
2 BCM_SSAHASNP ss14271096 Dec 05, 2003 (123)
3 WUGSC_SSAHASNP ss14465379 Dec 05, 2003 (123)
4 SC_SNP ss14805904 Dec 05, 2003 (119)
5 CSHL-HAPMAP ss16725079 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss17571868 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss19352389 Feb 27, 2004 (120)
8 SSAHASNP ss21351419 Apr 05, 2004 (123)
9 HGSV ss77377164 Dec 07, 2007 (129)
10 HGSV ss81386853 Dec 14, 2007 (130)
11 BCMHGSC_JDW ss90437163 Mar 24, 2008 (129)
12 BGI ss106479456 Feb 04, 2009 (130)
13 ILLUMINA-UK ss118299447 Dec 01, 2009 (131)
14 ENSEMBL ss136692154 Dec 01, 2009 (131)
15 ENSEMBL ss136793018 Dec 01, 2009 (131)
16 GMI ss157508574 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss168427189 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss170109284 Jul 04, 2010 (132)
19 BUSHMAN ss201862025 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss207715045 Jul 04, 2010 (132)
21 1000GENOMES ss237074673 Jul 15, 2010 (132)
22 BL ss255794872 May 09, 2011 (134)
23 GMI ss282584297 May 04, 2012 (137)
24 GMI ss287097112 Apr 25, 2013 (138)
25 PJP ss291868591 May 09, 2011 (134)
26 SSMP ss660760474 Apr 25, 2013 (138)
27 EVA-GONL ss992632450 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1080723189 Aug 21, 2014 (142)
29 1000GENOMES ss1356797259 Aug 21, 2014 (142)
30 DDI ss1427886123 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1577968864 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1634712591 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1677706624 Apr 01, 2015 (144)
34 EVA_DECODE ss1696669117 Apr 01, 2015 (144)
35 HAMMER_LAB ss1808574406 Sep 08, 2015 (146)
36 WEILL_CORNELL_DGM ss1936063553 Feb 12, 2016 (147)
37 GENOMED ss1968290679 Jul 19, 2016 (147)
38 JJLAB ss2028815420 Sep 14, 2016 (149)
39 USC_VALOUEV ss2157258105 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2213293452 Dec 20, 2016 (150)
41 SYSTEMSBIOZJU ss2628899892 Nov 08, 2017 (151)
42 GRF ss2701787644 Nov 08, 2017 (151)
43 GNOMAD ss2944626348 Nov 08, 2017 (151)
44 SWEGEN ss3014741615 Nov 08, 2017 (151)
45 BIOINF_KMB_FNS_UNIBA ss3028224757 Nov 08, 2017 (151)
46 CSHL ss3351513222 Nov 08, 2017 (151)
47 URBANLAB ss3650537658 Oct 12, 2018 (152)
48 EGCUT_WGS ss3681717799 Jul 13, 2019 (153)
49 EVA_DECODE ss3699538035 Jul 13, 2019 (153)
50 ACPOP ss3741628257 Jul 13, 2019 (153)
51 EVA ss3754101801 Jul 13, 2019 (153)
52 PACBIO ss3788075212 Jul 13, 2019 (153)
53 PACBIO ss3793051039 Jul 13, 2019 (153)
54 PACBIO ss3797936108 Jul 13, 2019 (153)
55 KHV_HUMAN_GENOMES ss3819384381 Jul 13, 2019 (153)
56 EVA ss3834636365 Apr 27, 2020 (154)
57 EVA ss3840923577 Apr 27, 2020 (154)
58 EVA ss3846416087 Apr 27, 2020 (154)
59 SGDP_PRJ ss3884730818 Apr 27, 2020 (154)
60 KRGDB ss3934260697 Apr 27, 2020 (154)
61 KOGIC ss3977866650 Apr 27, 2020 (154)
62 TOPMED ss5020325529 Apr 26, 2021 (155)
63 TOMMO_GENOMICS ss5220226653 Apr 26, 2021 (155)
64 1000G_HIGH_COVERAGE ss5301448707 Oct 16, 2022 (156)
65 1000G_HIGH_COVERAGE ss5301448708 Oct 16, 2022 (156)
66 EVA ss5424615263 Oct 16, 2022 (156)
67 HUGCELL_USP ss5494742944 Oct 16, 2022 (156)
68 EVA ss5511654107 Oct 16, 2022 (156)
69 1000G_HIGH_COVERAGE ss5604355093 Oct 16, 2022 (156)
70 SANFORD_IMAGENETICS ss5659173820 Oct 16, 2022 (156)
71 TOMMO_GENOMICS ss5775428549 Oct 16, 2022 (156)
72 YY_MCH ss5816090040 Oct 16, 2022 (156)
73 EVA ss5846598299 Oct 16, 2022 (156)
74 EVA ss5851620775 Oct 16, 2022 (156)
75 EVA ss5899645392 Oct 16, 2022 (156)
76 EVA ss5950571923 Oct 16, 2022 (156)
77 EVA ss5980928807 Oct 16, 2022 (156)
78 1000Genomes NC_000016.9 - 71833658 Oct 12, 2018 (152)
79 1000Genomes_30x NC_000016.10 - 71799755 Oct 16, 2022 (156)
80 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 71833658 Oct 12, 2018 (152)
81 Genetic variation in the Estonian population NC_000016.9 - 71833658 Oct 12, 2018 (152)
82 The Danish reference pan genome NC_000016.9 - 71833658 Apr 27, 2020 (154)
83 gnomAD - Genomes NC_000016.10 - 71799755 Apr 26, 2021 (155)
84 KOREAN population from KRGDB NC_000016.9 - 71833658 Apr 27, 2020 (154)
85 Korean Genome Project NC_000016.10 - 71799755 Apr 27, 2020 (154)
86 Northern Sweden NC_000016.9 - 71833658 Jul 13, 2019 (153)
87 Qatari NC_000016.9 - 71833658 Apr 27, 2020 (154)
88 SGDP_PRJ NC_000016.9 - 71833658 Apr 27, 2020 (154)
89 Siberian NC_000016.9 - 71833658 Apr 27, 2020 (154)
90 8.3KJPN NC_000016.9 - 71833658 Apr 26, 2021 (155)
91 14KJPN NC_000016.10 - 71799755 Oct 16, 2022 (156)
92 TopMed NC_000016.10 - 71799755 Apr 26, 2021 (155)
93 UK 10K study - Twins NC_000016.9 - 71833658 Oct 12, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000016.9 - 71833658 Jul 13, 2019 (153)
95 ALFA NC_000016.10 - 71799755 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).

Associated ID History Updated (Build)
rs10299391 Sep 24, 2004 (123)
rs10323111 Sep 24, 2004 (123)
rs12930476 Sep 24, 2004 (123)
rs57955763 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
41438091, ss3934260697 NC_000016.9:71833657:G:A NC_000016.10:71799754:G:A (self)
9645030123 NC_000016.10:71799754:G:A NC_000016.10:71799754:G:A (self)
ss77377164, ss81386853, ss90437163, ss118299447, ss168427189, ss170109284, ss201862025, ss207715045, ss255794872, ss282584297, ss287097112, ss291868591, ss1696669117 NC_000016.8:70391158:G:C NC_000016.10:71799754:G:C (self)
69979794, 38818418, 27456047, 4179036, 41438091, 14913122, 18105475, 36747798, 9774459, 78195960, 38818418, 8606083, ss237074673, ss660760474, ss992632450, ss1080723189, ss1356797259, ss1427886123, ss1577968864, ss1634712591, ss1677706624, ss1808574406, ss1936063553, ss1968290679, ss2028815420, ss2157258105, ss2628899892, ss2701787644, ss2944626348, ss3014741615, ss3351513222, ss3681717799, ss3741628257, ss3754101801, ss3788075212, ss3793051039, ss3797936108, ss3834636365, ss3840923577, ss3884730818, ss3934260697, ss5220226653, ss5424615263, ss5511654107, ss5659173820, ss5846598299, ss5950571923, ss5980928807 NC_000016.9:71833657:G:C NC_000016.10:71799754:G:C (self)
91881028, 493708862, 34244651, 109265653, 235871190, 9645030123, ss2213293452, ss3028224757, ss3650537658, ss3699538035, ss3819384381, ss3846416087, ss3977866650, ss5020325529, ss5301448707, ss5494742944, ss5604355093, ss5775428549, ss5816090040, ss5851620775, ss5899645392 NC_000016.10:71799754:G:C NC_000016.10:71799754:G:C (self)
ss10841065 NT_010498.13:20555160:G:C NC_000016.10:71799754:G:C (self)
ss14271096, ss14465379, ss14805904, ss16725079, ss17571868, ss19352389, ss21351419 NT_010498.14:20555155:G:C NC_000016.10:71799754:G:C (self)
ss106479456, ss136692154, ss136793018, ss157508574 NT_010498.15:25447856:G:C NC_000016.10:71799754:G:C (self)
41438091, ss3934260697 NC_000016.9:71833657:G:T NC_000016.10:71799754:G:T (self)
91881028, 9645030123, ss5301448708, ss5604355093 NC_000016.10:71799754:G:T NC_000016.10:71799754:G:T (self)
Help

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

No publications for rs7204118

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