Name: rs7998818
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.

rs7998818

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:28505270 (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=0.123295 (32635/264690, TOPMED)
G=0.116290 (16282/140012, GnomAD)
G=0.01939 (548/28258, 14KJPN) (+ 15 more)
G=0.06289 (1188/18890, ALFA)
G=0.02029 (340/16760, 8.3KJPN)
G=0.1398 (895/6404, 1000G_30x)
G=0.1350 (676/5008, 1000G)
G=0.0005 (2/3854, ALSPAC)
G=0.0024 (9/3708, TWINSUK)
G=0.0273 (80/2930, KOREAN)
G=0.0295 (54/1832, Korea1K)
G=0.001 (1/998, GoNL)
G=0.000 (0/600, NorthernSweden)
G=0.056 (31/550, SGDP_PRJ)
G=0.074 (16/216, Qatari)
G=0.070 (15/214, Vietnamese)
G=0.02 (1/56, Siberian)
G=0.03 (1/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	18890	G=0.06289	A=0.93711
European	Sub	14286	G=0.00189	A=0.99811
African	Sub	2946	G=0.3601	A=0.6399
African Others	Sub	114	G=0.412	A=0.588
African American	Sub	2832	G=0.3581	A=0.6419
Asian	Sub	112	G=0.009	A=0.991
East Asian	Sub	86	G=0.00	A=1.00
Other Asian	Sub	26	G=0.04	A=0.96
Latin American 1	Sub	146	G=0.116	A=0.884
Latin American 2	Sub	610	G=0.020	A=0.980
South Asian	Sub	98	G=0.02	A=0.98
Other	Sub	692	G=0.098	A=0.902

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	G=0.123295	A=0.876705
gnomAD - Genomes	Global	Study-wide	140012	G=0.116290	A=0.883710
gnomAD - Genomes	European	Sub	75936	G=0.00183	A=0.99817
gnomAD - Genomes	African	Sub	41828	G=0.36119	A=0.63881
gnomAD - Genomes	American	Sub	13646	G=0.04903	A=0.95097
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.0093	A=0.9907
gnomAD - Genomes	East Asian	Sub	3130	G=0.0428	A=0.9572
gnomAD - Genomes	Other	Sub	2148	G=0.0936	A=0.9064
14KJPN	JAPANESE	Study-wide	28258	G=0.01939	A=0.98061
Allele Frequency Aggregator	Total	Global	18890	G=0.06289	A=0.93711
Allele Frequency Aggregator	European	Sub	14286	G=0.00189	A=0.99811
Allele Frequency Aggregator	African	Sub	2946	G=0.3601	A=0.6399
Allele Frequency Aggregator	Other	Sub	692	G=0.098	A=0.902
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.020	A=0.980
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.116	A=0.884
Allele Frequency Aggregator	Asian	Sub	112	G=0.009	A=0.991
Allele Frequency Aggregator	South Asian	Sub	98	G=0.02	A=0.98
8.3KJPN	JAPANESE	Study-wide	16760	G=0.02029	A=0.97971
1000Genomes_30x	Global	Study-wide	6404	G=0.1398	A=0.8602
1000Genomes_30x	African	Sub	1786	G=0.4289	A=0.5711
1000Genomes_30x	Europe	Sub	1266	G=0.0032	A=0.9968
1000Genomes_30x	South Asian	Sub	1202	G=0.0283	A=0.9717
1000Genomes_30x	East Asian	Sub	1170	G=0.0513	A=0.9487
1000Genomes_30x	American	Sub	980	G=0.032	A=0.968
1000Genomes	Global	Study-wide	5008	G=0.1350	A=0.8650
1000Genomes	African	Sub	1322	G=0.4312	A=0.5688
1000Genomes	East Asian	Sub	1008	G=0.0486	A=0.9514
1000Genomes	Europe	Sub	1006	G=0.0040	A=0.9960
1000Genomes	South Asian	Sub	978	G=0.030	A=0.970
1000Genomes	American	Sub	694	G=0.035	A=0.965
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.0005	A=0.9995
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.0024	A=0.9976
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.0273	A=0.9727, C=0.0000, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	G=0.0295	A=0.9705
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.001	A=0.999
Northern Sweden	ACPOP	Study-wide	600	G=0.000	A=1.000
SGDP_PRJ	Global	Study-wide	550	G=0.056	A=0.944
Qatari	Global	Study-wide	216	G=0.074	A=0.926
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.070	A=0.930
Siberian	Global	Study-wide	56	G=0.02	A=0.98
The Danish reference pan genome	Danish	Study-wide	40	G=0.03	A=0.97

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 13	NC_000013.11:g.28505270G>A
GRCh38.p14 chr 13	NC_000013.11:g.28505270G>C
GRCh38.p14 chr 13	NC_000013.11:g.28505270G>T
GRCh37.p13 chr 13	NC_000013.10:g.29079407G>A
GRCh37.p13 chr 13	NC_000013.10:g.29079407G>C
GRCh37.p13 chr 13	NC_000013.10:g.29079407G>T

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

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 13	NC_000013.11:g.28505270=	NC_000013.11:g.28505270G>A	NC_000013.11:g.28505270G>C	NC_000013.11:g.28505270G>T
GRCh37.p13 chr 13	NC_000013.10:g.29079407=	NC_000013.10:g.29079407G>A	NC_000013.10:g.29079407G>C	NC_000013.10:g.29079407G>T

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#.

74 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12262042	Jul 11, 2003 (116)
2	SC_SNP	ss13157379	Dec 05, 2003 (119)
3	CSHL-HAPMAP	ss19281314	Feb 27, 2004 (120)
4	SSAHASNP	ss21052845	Apr 05, 2004 (121)
5	HGSV	ss77560583	Dec 05, 2007 (129)
6	BCMHGSC_JDW	ss89557986	Mar 24, 2008 (129)
7	HUMANGENOME_JCVI	ss96954591	Feb 04, 2009 (130)
8	BGI	ss106322293	Feb 04, 2009 (130)
9	1000GENOMES	ss112646426	Jan 25, 2009 (130)
10	1000GENOMES	ss114465441	Jan 25, 2009 (130)
11	ILLUMINA-UK	ss118401230	Dec 01, 2009 (131)
12	ENSEMBL	ss133503724	Dec 01, 2009 (131)
13	ENSEMBL	ss137274376	Dec 01, 2009 (131)
14	GMI	ss154582306	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss167788749	Jul 04, 2010 (132)
16	COMPLETE_GENOMICS	ss169068798	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss170930127	Jul 04, 2010 (132)
18	BUSHMAN	ss199011874	Jul 04, 2010 (132)
19	BCM-HGSC-SUB	ss208742158	Jul 04, 2010 (132)
20	1000GENOMES	ss226098616	Jul 14, 2010 (132)
21	1000GENOMES	ss236190107	Jul 15, 2010 (132)
22	1000GENOMES	ss242697716	Jul 15, 2010 (132)
23	BL	ss254884166	May 09, 2011 (134)
24	GMI	ss281652647	May 04, 2012 (137)
25	GMI	ss286675067	Apr 25, 2013 (138)
26	PJP	ss291564604	May 09, 2011 (134)
27	TISHKOFF	ss563570955	Apr 25, 2013 (138)
28	SSMP	ss659166767	Apr 25, 2013 (138)
29	EVA-GONL	ss990227405	Aug 21, 2014 (142)
30	JMKIDD_LAB	ss1078962909	Aug 21, 2014 (142)
31	1000GENOMES	ss1347616113	Aug 21, 2014 (142)
32	DDI	ss1427140137	Apr 01, 2015 (144)
33	EVA_GENOME_DK	ss1576694331	Apr 01, 2015 (144)
34	EVA_UK10K_ALSPAC	ss1629955154	Apr 01, 2015 (144)
35	EVA_UK10K_TWINSUK	ss1672949187	Apr 01, 2015 (144)
36	HAMMER_LAB	ss1807541281	Sep 08, 2015 (146)
37	WEILL_CORNELL_DGM	ss1933596312	Feb 12, 2016 (147)
38	GENOMED	ss1967743069	Jul 19, 2016 (147)
39	JJLAB	ss2027553754	Sep 14, 2016 (149)
40	USC_VALOUEV	ss2155918472	Dec 20, 2016 (150)
41	HUMAN_LONGEVITY	ss2195095305	Dec 20, 2016 (150)
42	SYSTEMSBIOZJU	ss2628265011	Nov 08, 2017 (151)
43	GRF	ss2700290652	Nov 08, 2017 (151)
44	GNOMAD	ss2917934379	Nov 08, 2017 (151)
45	SWEGEN	ss3010772875	Nov 08, 2017 (151)
46	BIOINF_KMB_FNS_UNIBA	ss3027592410	Nov 08, 2017 (151)
47	CSHL	ss3350381459	Nov 08, 2017 (151)
48	URBANLAB	ss3649996217	Oct 12, 2018 (152)
49	EVA_DECODE	ss3694989895	Jul 13, 2019 (153)
50	ACPOP	ss3739611576	Jul 13, 2019 (153)
51	EVA	ss3751274676	Jul 13, 2019 (153)
52	PACBIO	ss3787414014	Jul 13, 2019 (153)
53	PACBIO	ss3792486703	Jul 13, 2019 (153)
54	PACBIO	ss3797370421	Jul 13, 2019 (153)
55	KHV_HUMAN_GENOMES	ss3816605701	Jul 13, 2019 (153)
56	EVA	ss3833466434	Apr 27, 2020 (154)
57	EVA	ss3840310331	Apr 27, 2020 (154)
58	EVA	ss3845795062	Apr 27, 2020 (154)
59	SGDP_PRJ	ss3879658893	Apr 27, 2020 (154)
60	KRGDB	ss3928480244	Apr 27, 2020 (154)
61	KOGIC	ss3973266423	Apr 27, 2020 (154)
62	TOPMED	ss4940968188	Apr 26, 2021 (155)
63	TOMMO_GENOMICS	ss5209312737	Apr 26, 2021 (155)
64	1000G_HIGH_COVERAGE	ss5293205268	Oct 16, 2022 (156)
65	EVA	ss5409799811	Oct 16, 2022 (156)
66	HUGCELL_USP	ss5487621487	Oct 16, 2022 (156)
67	1000G_HIGH_COVERAGE	ss5591888551	Oct 16, 2022 (156)
68	SANFORD_IMAGENETICS	ss5654464725	Oct 16, 2022 (156)
69	TOMMO_GENOMICS	ss5760993273	Oct 16, 2022 (156)
70	YY_MCH	ss5813978087	Oct 16, 2022 (156)
71	EVA	ss5839265504	Oct 16, 2022 (156)
72	EVA	ss5850661542	Oct 16, 2022 (156)
73	EVA	ss5924493600	Oct 16, 2022 (156)
74	EVA	ss5945870908	Oct 16, 2022 (156)
75	1000Genomes	NC_000013.10 - 29079407	Oct 12, 2018 (152)
76	1000Genomes_30x	NC_000013.11 - 28505270	Oct 16, 2022 (156)
77	The Avon Longitudinal Study of Parents and Children	NC_000013.10 - 29079407	Oct 12, 2018 (152)
78	The Danish reference pan genome	NC_000013.10 - 29079407	Apr 27, 2020 (154)
79	gnomAD - Genomes	NC_000013.11 - 28505270	Apr 26, 2021 (155)
80	Genome of the Netherlands Release 5	NC_000013.10 - 29079407	Apr 27, 2020 (154)
81	KOREAN population from KRGDB	NC_000013.10 - 29079407	Apr 27, 2020 (154)
82	Korean Genome Project	NC_000013.11 - 28505270	Apr 27, 2020 (154)
83	Northern Sweden	NC_000013.10 - 29079407	Jul 13, 2019 (153)
84	Qatari	NC_000013.10 - 29079407	Apr 27, 2020 (154)
85	SGDP_PRJ	NC_000013.10 - 29079407	Apr 27, 2020 (154)
86	Siberian	NC_000013.10 - 29079407	Apr 27, 2020 (154)
87	8.3KJPN	NC_000013.10 - 29079407	Apr 26, 2021 (155)
88	14KJPN	NC_000013.11 - 28505270	Oct 16, 2022 (156)
89	TopMed	NC_000013.11 - 28505270	Apr 26, 2021 (155)
90	UK 10K study - Twins	NC_000013.10 - 29079407	Oct 12, 2018 (152)
91	A Vietnamese Genetic Variation Database	NC_000013.10 - 29079407	Jul 13, 2019 (153)
92	ALFA	NC_000013.11 - 28505270	Apr 26, 2021 (155)

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
ss77560583, ss89557986, ss112646426, ss114465441, ss118401230, ss167788749, ss169068798, ss170930127, ss199011874, ss208742158, ss254884166, ss281652647, ss286675067, ss291564604	NC_000013.9:27977406:G:A	NC_000013.11:28505269:G:A	(self)
60464395, 33581771, 3233984, 14983905, 35657638, 12896441, 15638242, 31675873, 8434826, 67282044, 33581771, 7449118, ss226098616, ss236190107, ss242697716, ss563570955, ss659166767, ss990227405, ss1078962909, ss1347616113, ss1427140137, ss1576694331, ss1629955154, ss1672949187, ss1807541281, ss1933596312, ss1967743069, ss2027553754, ss2155918472, ss2628265011, ss2700290652, ss2917934379, ss3010772875, ss3350381459, ss3739611576, ss3751274676, ss3787414014, ss3792486703, ss3797370421, ss3833466434, ss3840310331, ss3879658893, ss3928480244, ss5209312737, ss5409799811, ss5654464725, ss5839265504, ss5945870908	NC_000013.10:29079406:G:A	NC_000013.11:28505269:G:A	(self)
79414486, 426359769, 29644424, 94830377, 156513846, 10337850197, ss2195095305, ss3027592410, ss3649996217, ss3694989895, ss3816605701, ss3845795062, ss3973266423, ss4940968188, ss5293205268, ss5487621487, ss5591888551, ss5760993273, ss5813978087, ss5850661542, ss5924493600	NC_000013.11:28505269:G:A	NC_000013.11:28505269:G:A	(self)
ss12262042, ss13157379	NT_009799.12:10059406:G:A	NC_000013.11:28505269:G:A	(self)
ss19281314, ss21052845	NT_024524.13:10059406:G:A	NC_000013.11:28505269:G:A	(self)
ss96954591, ss106322293, ss133503724, ss137274376, ss154582306	NT_024524.14:10059406:G:A	NC_000013.11:28505269:G:A	(self)
35657638, ss3928480244	NC_000013.10:29079406:G:C	NC_000013.11:28505269:G:C	(self)
35657638, ss3928480244	NC_000013.10:29079406:G:T	NC_000013.11:28505269:G:T	(self)

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

No publications for rs7998818

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

rs7998818