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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.

rs7248000

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:57250771 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.419249 (110971/264690, TOPMED)
A=0.437529 (61234/139954, GnomAD)
A=0.46762 (13272/28382, ALFA) (+ 18 more)
A=0.16222 (4584/28258, 14KJPN)
A=0.16158 (2708/16760, 8.3KJPN)
A=0.3659 (2343/6404, 1000G_30x)
A=0.3662 (1834/5008, 1000G)
G=0.4406 (1974/4480, Estonian)
G=0.4865 (1875/3854, ALSPAC)
G=0.4844 (1796/3708, TWINSUK)
A=0.1557 (455/2922, KOREAN)
A=0.3587 (678/1890, HapMap)
A=0.1763 (323/1832, Korea1K)
G=0.465 (464/998, GoNL)
A=0.403 (252/626, Chileans)
A=0.460 (276/600, NorthernSweden)
G=0.357 (107/300, SGDP_PRJ)
A=0.440 (95/216, Qatari)
A=0.126 (27/214, Vietnamese)
G=0.42 (17/40, GENOME_DK)
G=0.43 (13/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF805 : 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 28382 G=0.53238 A=0.46762
European Sub 17398 G=0.45632 A=0.54368
African Sub 6254 G=0.7189 A=0.2811
African Others Sub 210 G=0.748 A=0.252
African American Sub 6044 G=0.7179 A=0.2821
Asian Sub 160 G=0.787 A=0.212
East Asian Sub 102 G=0.804 A=0.196
Other Asian Sub 58 G=0.76 A=0.24
Latin American 1 Sub 292 G=0.521 A=0.479
Latin American 2 Sub 2770 G=0.5491 A=0.4509
South Asian Sub 110 G=0.618 A=0.382
Other Sub 1398 G=0.5780 A=0.4220


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=0.580751 A=0.419249
gnomAD - Genomes Global Study-wide 139954 G=0.562471 A=0.437529
gnomAD - Genomes European Sub 75820 G=0.47052 A=0.52948
gnomAD - Genomes African Sub 41902 G=0.71915 A=0.28085
gnomAD - Genomes American Sub 13632 G=0.55260 A=0.44740
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.4630 A=0.5370
gnomAD - Genomes East Asian Sub 3124 G=0.8275 A=0.1725
gnomAD - Genomes Other Sub 2152 G=0.5827 A=0.4173
Allele Frequency Aggregator Total Global 28382 G=0.53238 A=0.46762
Allele Frequency Aggregator European Sub 17398 G=0.45632 A=0.54368
Allele Frequency Aggregator African Sub 6254 G=0.7189 A=0.2811
Allele Frequency Aggregator Latin American 2 Sub 2770 G=0.5491 A=0.4509
Allele Frequency Aggregator Other Sub 1398 G=0.5780 A=0.4220
Allele Frequency Aggregator Latin American 1 Sub 292 G=0.521 A=0.479
Allele Frequency Aggregator Asian Sub 160 G=0.787 A=0.212
Allele Frequency Aggregator South Asian Sub 110 G=0.618 A=0.382
14KJPN JAPANESE Study-wide 28258 G=0.83778 A=0.16222
8.3KJPN JAPANESE Study-wide 16760 G=0.83842 A=0.16158
1000Genomes_30x Global Study-wide 6404 G=0.6341 A=0.3659
1000Genomes_30x African Sub 1786 G=0.7592 A=0.2408
1000Genomes_30x Europe Sub 1266 G=0.4281 A=0.5719
1000Genomes_30x South Asian Sub 1202 G=0.5491 A=0.4509
1000Genomes_30x East Asian Sub 1170 G=0.8214 A=0.1786
1000Genomes_30x American Sub 980 G=0.553 A=0.447
1000Genomes Global Study-wide 5008 G=0.6338 A=0.3662
1000Genomes African Sub 1322 G=0.7579 A=0.2421
1000Genomes East Asian Sub 1008 G=0.8204 A=0.1796
1000Genomes Europe Sub 1006 G=0.4254 A=0.5746
1000Genomes South Asian Sub 978 G=0.546 A=0.454
1000Genomes American Sub 694 G=0.552 A=0.448
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4406 A=0.5594
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4865 A=0.5135
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4844 A=0.5156
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.8443 A=0.1557, C=0.0000
HapMap Global Study-wide 1890 G=0.6413 A=0.3587
HapMap American Sub 768 G=0.586 A=0.414
HapMap African Sub 692 G=0.698 A=0.302
HapMap Asian Sub 254 G=0.803 A=0.197
HapMap Europe Sub 176 G=0.426 A=0.574
Korean Genome Project KOREAN Study-wide 1832 G=0.8237 A=0.1763
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.465 A=0.535
Chileans Chilean Study-wide 626 G=0.597 A=0.403
Northern Sweden ACPOP Study-wide 600 G=0.540 A=0.460
SGDP_PRJ Global Study-wide 300 G=0.357 A=0.643
Qatari Global Study-wide 216 G=0.560 A=0.440
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.874 A=0.126
The Danish reference pan genome Danish Study-wide 40 G=0.42 A=0.57
Siberian Global Study-wide 30 G=0.43 A=0.57
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 19 NC_000019.10:g.57250771G>A
GRCh38.p14 chr 19 NC_000019.10:g.57250771G>C
GRCh37.p13 chr 19 NC_000019.9:g.57762139G>A
GRCh37.p13 chr 19 NC_000019.9:g.57762139G>C
Gene: ZNF805, zinc finger protein 805 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF805 transcript variant 1 NM_001023563.4:c.253+2071…

NM_001023563.4:c.253+2071G>A

 		N/A Intron Variant
ZNF805 transcript variant 2 NM_001145078.2:c.-147+207…

NM_001145078.2:c.-147+2071G>A

 		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
GRCh38.p14 chr 19 NC_000019.10:g.57250771= NC_000019.10:g.57250771G>A NC_000019.10:g.57250771G>C
GRCh37.p13 chr 19 NC_000019.9:g.57762139= NC_000019.9:g.57762139G>A NC_000019.9:g.57762139G>C
ZNF805 transcript variant 1 NM_001023563.3:c.253+2071= NM_001023563.3:c.253+2071G>A NM_001023563.3:c.253+2071G>C
ZNF805 transcript variant 1 NM_001023563.4:c.253+2071= NM_001023563.4:c.253+2071G>A NM_001023563.4:c.253+2071G>C
ZNF805 transcript variant 2 NM_001145078.1:c.-147+2071= NM_001145078.1:c.-147+2071G>A NM_001145078.1:c.-147+2071G>C
ZNF805 transcript variant 2 NM_001145078.2:c.-147+2071= NM_001145078.2:c.-147+2071G>A NM_001145078.2:c.-147+2071G>C
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#.

73 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10922351 Jul 11, 2003 (116)
2 PERLEGEN ss24588291 Sep 20, 2004 (123)
3 ABI ss44159797 Mar 15, 2006 (126)
4 AFFY ss66127700 Dec 02, 2006 (127)
5 AFFY ss76129854 Dec 06, 2007 (129)
6 HGSV ss77527535 Dec 06, 2007 (129)
7 KRIBB_YJKIM ss82413455 Dec 15, 2007 (130)
8 BCMHGSC_JDW ss91020038 Mar 24, 2008 (129)
9 HUMANGENOME_JCVI ss96317979 Feb 06, 2009 (130)
10 BGI ss103448588 Dec 01, 2009 (131)
11 1000GENOMES ss111566454 Jan 25, 2009 (130)
12 ILLUMINA-UK ss117751513 Feb 14, 2009 (130)
13 ENSEMBL ss136229382 Dec 01, 2009 (131)
14 ENSEMBL ss137746621 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss168418483 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss171900198 Jul 04, 2010 (132)
17 AFFY ss172590724 Jul 04, 2010 (132)
18 BUSHMAN ss203800858 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss208393039 Jul 04, 2010 (132)
20 1000GENOMES ss228205924 Jul 14, 2010 (132)
21 1000GENOMES ss237726517 Jul 15, 2010 (132)
22 1000GENOMES ss243920744 Jul 15, 2010 (132)
23 BL ss255786442 May 09, 2011 (134)
24 GMI ss283265220 May 04, 2012 (137)
25 GMI ss287406908 Apr 25, 2013 (138)
26 PJP ss292203020 May 09, 2011 (134)
27 TISHKOFF ss566076055 Apr 25, 2013 (138)
28 SSMP ss661946731 Apr 25, 2013 (138)
29 EVA-GONL ss994446346 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1082002853 Aug 21, 2014 (142)
31 1000GENOMES ss1363725187 Aug 21, 2014 (142)
32 DDI ss1428447885 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1578697183 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1638229017 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1681223050 Apr 01, 2015 (144)
36 EVA_DECODE ss1698499607 Apr 01, 2015 (144)
37 EVA_SVP ss1713671597 Apr 01, 2015 (144)
38 WEILL_CORNELL_DGM ss1937954973 Feb 12, 2016 (147)
39 GENOMED ss1968670372 Jul 19, 2016 (147)
40 JJLAB ss2029751936 Sep 14, 2016 (149)
41 USC_VALOUEV ss2158306183 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2226759733 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2629373625 Nov 08, 2017 (151)
44 GRF ss2702923581 Nov 08, 2017 (151)
45 GNOMAD ss2964480405 Nov 08, 2017 (151)
46 SWEGEN ss3017725117 Nov 08, 2017 (151)
47 BIOINF_KMB_FNS_UNIBA ss3028707682 Nov 08, 2017 (151)
48 CSHL ss3352375374 Nov 08, 2017 (151)
49 URBANLAB ss3650950894 Oct 12, 2018 (152)
50 EGCUT_WGS ss3684441368 Jul 13, 2019 (153)
51 EVA_DECODE ss3703062316 Jul 13, 2019 (153)
52 ACPOP ss3743169475 Jul 13, 2019 (153)
53 EVA ss3756233431 Jul 13, 2019 (153)
54 KHV_HUMAN_GENOMES ss3821487131 Jul 13, 2019 (153)
55 EVA ss3835539771 Apr 27, 2020 (154)
56 EVA ss3841392531 Apr 27, 2020 (154)
57 EVA ss3846899815 Apr 27, 2020 (154)
58 SGDP_PRJ ss3888547648 Apr 27, 2020 (154)
59 KRGDB ss3938719654 Apr 27, 2020 (154)
60 KOGIC ss3981655032 Apr 27, 2020 (154)
61 TOPMED ss5079374461 Apr 27, 2021 (155)
62 TOMMO_GENOMICS ss5228454434 Apr 27, 2021 (155)
63 1000G_HIGH_COVERAGE ss5307782270 Oct 13, 2022 (156)
64 EVA ss5435717729 Oct 13, 2022 (156)
65 HUGCELL_USP ss5500213541 Oct 13, 2022 (156)
66 EVA ss5512131903 Oct 13, 2022 (156)
67 1000G_HIGH_COVERAGE ss5613722158 Oct 13, 2022 (156)
68 SANFORD_IMAGENETICS ss5662690374 Oct 13, 2022 (156)
69 TOMMO_GENOMICS ss5787327176 Oct 13, 2022 (156)
70 YY_MCH ss5817739193 Oct 13, 2022 (156)
71 EVA ss5840754951 Oct 13, 2022 (156)
72 EVA ss5928648245 Oct 13, 2022 (156)
73 EVA ss5954087318 Oct 13, 2022 (156)
74 1000Genomes NC_000019.9 - 57762139 Oct 12, 2018 (152)
75 1000Genomes_30x NC_000019.10 - 57250771 Oct 13, 2022 (156)
76 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 57762139 Oct 12, 2018 (152)
77 Chileans NC_000019.9 - 57762139 Apr 27, 2020 (154)
78 Genetic variation in the Estonian population NC_000019.9 - 57762139 Oct 12, 2018 (152)
79 The Danish reference pan genome NC_000019.9 - 57762139 Apr 27, 2020 (154)
80 gnomAD - Genomes NC_000019.10 - 57250771 Apr 27, 2021 (155)
81 Genome of the Netherlands Release 5 NC_000019.9 - 57762139 Apr 27, 2020 (154)
82 HapMap NC_000019.10 - 57250771 Apr 27, 2020 (154)
83 KOREAN population from KRGDB NC_000019.9 - 57762139 Apr 27, 2020 (154)
84 Korean Genome Project NC_000019.10 - 57250771 Apr 27, 2020 (154)
85 Northern Sweden NC_000019.9 - 57762139 Jul 13, 2019 (153)
86 Qatari NC_000019.9 - 57762139 Apr 27, 2020 (154)
87 SGDP_PRJ NC_000019.9 - 57762139 Apr 27, 2020 (154)
88 Siberian NC_000019.9 - 57762139 Apr 27, 2020 (154)
89 8.3KJPN NC_000019.9 - 57762139 Apr 27, 2021 (155)
90 14KJPN NC_000019.10 - 57250771 Oct 13, 2022 (156)
91 TopMed NC_000019.10 - 57250771 Apr 27, 2021 (155)
92 UK 10K study - Twins NC_000019.9 - 57762139 Oct 12, 2018 (152)
93 A Vietnamese Genetic Variation Database NC_000019.9 - 57762139 Jul 13, 2019 (153)
94 ALFA NC_000019.10 - 57250771 Apr 27, 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)
rs17740092 Oct 08, 2004 (123)
rs60659594 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77527535, ss91020038, ss111566454, ss117751513, ss168418483, ss171900198, ss203800858, ss208393039, ss255786442, ss283265220, ss287406908, ss292203020, ss1698499607, ss1713671597 NC_000019.8:62453950:G:A NC_000019.10:57250770:G:A (self)
77153101, 42702921, 207514, 30179616, 4877335, 19027923, 45897048, 16454340, 19996895, 40564628, 10822537, 86423741, 42702921, 9427987, ss228205924, ss237726517, ss243920744, ss566076055, ss661946731, ss994446346, ss1082002853, ss1363725187, ss1428447885, ss1578697183, ss1638229017, ss1681223050, ss1937954973, ss1968670372, ss2029751936, ss2158306183, ss2629373625, ss2702923581, ss2964480405, ss3017725117, ss3352375374, ss3684441368, ss3743169475, ss3756233431, ss3835539771, ss3841392531, ss3888547648, ss3938719654, ss5228454434, ss5435717729, ss5512131903, ss5662690374, ss5840754951, ss5954087318 NC_000019.9:57762138:G:A NC_000019.10:57250770:G:A (self)
101248093, 544068329, 1716952, 38033033, 121164280, 294920125, 9041731333, ss2226759733, ss3028707682, ss3650950894, ss3703062316, ss3821487131, ss3846899815, ss3981655032, ss5079374461, ss5307782270, ss5500213541, ss5613722158, ss5787327176, ss5817739193, ss5928648245 NC_000019.10:57250770:G:A NC_000019.10:57250770:G:A (self)
ss10922351 NT_011109.15:30030328:G:A NC_000019.10:57250770:G:A (self)
ss24588291, ss44159797, ss66127700, ss76129854, ss82413455, ss96317979, ss103448588, ss136229382, ss137746621, ss172590724 NT_011109.16:30030356:G:A NC_000019.10:57250770:G:A (self)
45897048, ss3938719654 NC_000019.9:57762138:G:C NC_000019.10:57250770:G:C (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 rs7248000

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