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dbSNP Short Genetic Variations

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.

rs7527199

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:3808024 (GRCh38.p13) 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
A>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.335721 (88862/264690, TOPMED)
A=0.333741 (46675/139854, GnomAD)
A=0.36818 (6955/18890, ALFA) (+ 13 more)
A=0.43771 (7336/16760, 8.3KJPN)
A=0.3167 (1586/5008, 1000G)
A=0.3989 (1787/4480, Estonian)
A=0.4346 (1675/3854, ALSPAC)
A=0.4388 (1627/3708, TWINSUK)
A=0.3427 (1004/2930, KOREAN)
A=0.416 (415/998, GoNL)
A=0.438 (263/600, NorthernSweden)
A=0.226 (109/482, SGDP_PRJ)
A=0.269 (58/216, Qatari)
A=0.302 (64/212, Vietnamese)
A=0.20 (10/50, Siberian)
A=0.35 (14/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.3808024A>C
GRCh38.p13 chr 1 NC_000001.11:g.3808024A>G
GRCh37.p13 chr 1 NC_000001.10:g.3724588A>C
GRCh37.p13 chr 1 NC_000001.10:g.3724588A>G
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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 18890 A=0.36818 C=0.63182
European Sub 14286 A=0.41565 C=0.58435
African Sub 2946 A=0.1422 C=0.8578
African Others Sub 114 A=0.070 C=0.930
African American Sub 2832 A=0.1451 C=0.8549
Asian Sub 112 A=0.339 C=0.661
East Asian Sub 86 A=0.29 C=0.71
Other Asian Sub 26 A=0.50 C=0.50
Latin American 1 Sub 146 A=0.295 C=0.705
Latin American 2 Sub 610 A=0.407 C=0.593
South Asian Sub 98 A=0.24 C=0.76
Other Sub 692 A=0.354 C=0.646


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 A=0.335721 C=0.664279
gnomAD - Genomes Global Study-wide 139854 A=0.333741 C=0.666259
gnomAD - Genomes European Sub 75754 A=0.41319 C=0.58681
gnomAD - Genomes African Sub 41900 A=0.15236 C=0.84764
gnomAD - Genomes American Sub 13612 A=0.44931 C=0.55069
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=0.3373 C=0.6627
gnomAD - Genomes East Asian Sub 3124 A=0.3207 C=0.6793
gnomAD - Genomes Other Sub 2146 A=0.3509 C=0.6491
8.3KJPN JAPANESE Study-wide 16760 A=0.43771 C=0.56229
1000Genomes Global Study-wide 5008 A=0.3167 C=0.6833
1000Genomes African Sub 1322 A=0.1104 C=0.8896
1000Genomes East Asian Sub 1008 A=0.3393 C=0.6607
1000Genomes Europe Sub 1006 A=0.4304 C=0.5696
1000Genomes South Asian Sub 978 A=0.332 C=0.668
1000Genomes American Sub 694 A=0.490 C=0.510
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.3989 C=0.6011
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.4346 C=0.5654
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.4388 C=0.5612
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.3427 C=0.6573, G=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.416 C=0.584
Northern Sweden ACPOP Study-wide 600 A=0.438 C=0.562
SGDP_PRJ Global Study-wide 482 A=0.226 C=0.774
Qatari Global Study-wide 216 A=0.269 C=0.731
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.302 C=0.698
Siberian Global Study-wide 50 A=0.20 C=0.80
The Danish reference pan genome Danish Study-wide 40 A=0.35 C=0.65
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 A= C G
GRCh38.p13 chr 1 NC_000001.11:g.3808024= NC_000001.11:g.3808024A>C NC_000001.11:g.3808024A>G
GRCh37.p13 chr 1 NC_000001.10:g.3724588= NC_000001.10:g.3724588A>C NC_000001.10:g.3724588A>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#.

59 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11372301 Jul 11, 2003 (116)
2 SC_SNP ss12992568 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss19105627 Feb 27, 2004 (120)
4 SSAHASNP ss20556444 Apr 05, 2004 (121)
5 ABI ss41084180 Mar 15, 2006 (126)
6 HGSV ss84413996 Dec 14, 2007 (130)
7 BCMHGSC_JDW ss87174350 Mar 23, 2008 (129)
8 1000GENOMES ss107948992 Jan 22, 2009 (130)
9 ENSEMBL ss131785135 Dec 01, 2009 (131)
10 ENSEMBL ss137763556 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss163737911 Jul 04, 2010 (132)
12 BUSHMAN ss197924942 Jul 04, 2010 (132)
13 BCM-HGSC-SUB ss205506397 Jul 04, 2010 (132)
14 1000GENOMES ss218203246 Jul 14, 2010 (132)
15 1000GENOMES ss230404128 Jul 14, 2010 (132)
16 1000GENOMES ss238123016 Jul 15, 2010 (132)
17 BL ss252880342 May 09, 2011 (134)
18 GMI ss275691438 May 04, 2012 (137)
19 GMI ss283991002 Apr 25, 2013 (138)
20 PJP ss290498307 May 09, 2011 (134)
21 TISHKOFF ss553734670 Apr 25, 2013 (138)
22 SSMP ss647536436 Apr 25, 2013 (138)
23 EVA-GONL ss974796412 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1067627273 Aug 21, 2014 (142)
25 1000GENOMES ss1289451527 Aug 21, 2014 (142)
26 DDI ss1425692988 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1573860110 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1599427288 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1642421321 Apr 01, 2015 (144)
30 HAMMER_LAB ss1793785064 Sep 08, 2015 (146)
31 WEILL_CORNELL_DGM ss1917991954 Feb 12, 2016 (147)
32 GENOMED ss1966671365 Jul 19, 2016 (147)
33 JJLAB ss2019512111 Sep 14, 2016 (149)
34 USC_VALOUEV ss2147502497 Dec 20, 2016 (150)
35 HUMAN_LONGEVITY ss2159574368 Dec 20, 2016 (150)
36 TOPMED ss2321729265 Dec 20, 2016 (150)
37 SYSTEMSBIOZJU ss2624271816 Nov 08, 2017 (151)
38 GRF ss2697396532 Nov 08, 2017 (151)
39 GNOMAD ss2750971918 Nov 08, 2017 (151)
40 SWEGEN ss2986201255 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3023519677 Nov 08, 2017 (151)
42 TOPMED ss3067125617 Nov 08, 2017 (151)
43 CSHL ss3343288924 Nov 08, 2017 (151)
44 URBANLAB ss3646586732 Oct 11, 2018 (152)
45 EGCUT_WGS ss3654302470 Jul 12, 2019 (153)
46 EVA_DECODE ss3686047142 Jul 12, 2019 (153)
47 ACPOP ss3726740000 Jul 12, 2019 (153)
48 EVA ss3745755267 Jul 12, 2019 (153)
49 PACBIO ss3783308764 Jul 12, 2019 (153)
50 PACBIO ss3788985647 Jul 12, 2019 (153)
51 PACBIO ss3793858278 Jul 12, 2019 (153)
52 KHV_HUMAN_GENOMES ss3798776979 Jul 12, 2019 (153)
53 EVA ss3825993960 Apr 25, 2020 (154)
54 EVA ss3836384148 Apr 25, 2020 (154)
55 EVA ss3841788312 Apr 25, 2020 (154)
56 SGDP_PRJ ss3848069464 Apr 25, 2020 (154)
57 KRGDB ss3892931017 Apr 25, 2020 (154)
58 TOPMED ss4437304184 Apr 25, 2021 (155)
59 TOMMO_GENOMICS ss5142201535 Apr 25, 2021 (155)
60 1000Genomes NC_000001.10 - 3724588 Oct 11, 2018 (152)
61 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 3724588 Oct 11, 2018 (152)
62 Genetic variation in the Estonian population NC_000001.10 - 3724588 Oct 11, 2018 (152)
63 The Danish reference pan genome NC_000001.10 - 3724588 Apr 25, 2020 (154)
64 gnomAD - Genomes NC_000001.11 - 3808024 Apr 25, 2021 (155)
65 Genome of the Netherlands Release 5 NC_000001.10 - 3724588 Apr 25, 2020 (154)
66 KOREAN population from KRGDB NC_000001.10 - 3724588 Apr 25, 2020 (154)
67 Northern Sweden NC_000001.10 - 3724588 Jul 12, 2019 (153)
68 Qatari NC_000001.10 - 3724588 Apr 25, 2020 (154)
69 SGDP_PRJ NC_000001.10 - 3724588 Apr 25, 2020 (154)
70 Siberian NC_000001.10 - 3724588 Apr 25, 2020 (154)
71 8.3KJPN NC_000001.10 - 3724588 Apr 25, 2021 (155)
72 TopMed NC_000001.11 - 3808024 Apr 25, 2021 (155)
73 UK 10K study - Twins NC_000001.10 - 3724588 Oct 11, 2018 (152)
74 A Vietnamese Genetic Variation Database NC_000001.10 - 3724588 Jul 12, 2019 (153)
75 ALFA NC_000001.11 - 3808024 Apr 25, 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)
rs58066190 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84413996 NC_000001.8:3747744:A:C NC_000001.11:3808023:A:C (self)
ss87174350, ss107948992, ss163737911, ss197924942, ss205506397, ss252880342, ss275691438, ss283991002, ss290498307 NC_000001.9:3714447:A:C NC_000001.11:3808023:A:C (self)
119553, 53523, 40718, 1367344, 23025, 108411, 24865, 33884, 86444, 18851, 170842, 53523, 11304, ss218203246, ss230404128, ss238123016, ss553734670, ss647536436, ss974796412, ss1067627273, ss1289451527, ss1425692988, ss1573860110, ss1599427288, ss1642421321, ss1793785064, ss1917991954, ss1966671365, ss2019512111, ss2147502497, ss2321729265, ss2624271816, ss2697396532, ss2750971918, ss2986201255, ss3343288924, ss3654302470, ss3726740000, ss3745755267, ss3783308764, ss3788985647, ss3793858278, ss3825993960, ss3836384148, ss3848069464, ss3892931017, ss5142201535 NC_000001.10:3724587:A:C NC_000001.11:3808023:A:C (self)
862596, 566811, 910519, 6309796631, ss2159574368, ss3023519677, ss3067125617, ss3646586732, ss3686047142, ss3798776979, ss3841788312, ss4437304184 NC_000001.11:3808023:A:C NC_000001.11:3808023:A:C (self)
ss11372301, ss12992568, ss19105627, ss20556444 NT_004321.15:1031361:A:C NC_000001.11:3808023:A:C (self)
ss41084180, ss131785135, ss137763556 NT_004350.19:3203219:A:C NC_000001.11:3808023:A:C (self)
108411, ss3892931017 NC_000001.10:3724587:A:G NC_000001.11:3808023:A:G (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 rs7527199

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.post596+ae089ad