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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.

rs9505994

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:28450209 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.223597 (59184/264690, TOPMED)
A=0.213323 (29881/140074, GnomAD)
A=0.21663 (6614/30532, ALFA) (+ 16 more)
A=0.45516 (12862/28258, 14KJPN)
A=0.45650 (7651/16760, 8.3KJPN)
A=0.2783 (1782/6404, 1000G_30x)
A=0.2865 (1435/5008, 1000G)
A=0.1752 (785/4480, Estonian)
A=0.2203 (849/3854, ALSPAC)
A=0.2325 (862/3708, TWINSUK)
A=0.3679 (1078/2930, KOREAN)
A=0.3734 (684/1832, Korea1K)
A=0.221 (221/998, GoNL)
A=0.183 (110/600, NorthernSweden)
A=0.218 (109/500, SGDP_PRJ)
A=0.282 (61/216, Qatari)
A=0.434 (92/212, Vietnamese)
A=0.15 (8/52, Siberian)
A=0.10 (4/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FLT1 : 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 30532 A=0.21663 G=0.78337
European Sub 24706 A=0.21813 G=0.78187
African Sub 3144 A=0.1746 G=0.8254
African Others Sub 124 A=0.137 G=0.863
African American Sub 3020 A=0.1762 G=0.8238
Asian Sub 124 A=0.355 G=0.645
East Asian Sub 98 A=0.40 G=0.60
Other Asian Sub 26 A=0.19 G=0.81
Latin American 1 Sub 160 A=0.256 G=0.744
Latin American 2 Sub 694 A=0.248 G=0.752
South Asian Sub 114 A=0.368 G=0.632
Other Sub 1590 A=0.2371 G=0.7629


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=0.223597 G=0.776403
gnomAD - Genomes Global Study-wide 140074 A=0.213323 G=0.786677
gnomAD - Genomes European Sub 75884 A=0.21414 G=0.78586
gnomAD - Genomes African Sub 41954 A=0.18284 G=0.81716
gnomAD - Genomes American Sub 13644 A=0.24868 G=0.75132
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.2744 G=0.7256
gnomAD - Genomes East Asian Sub 3118 A=0.3631 G=0.6369
gnomAD - Genomes Other Sub 2150 A=0.2433 G=0.7567
Allele Frequency Aggregator Total Global 30532 A=0.21663 G=0.78337
Allele Frequency Aggregator European Sub 24706 A=0.21813 G=0.78187
Allele Frequency Aggregator African Sub 3144 A=0.1746 G=0.8254
Allele Frequency Aggregator Other Sub 1590 A=0.2371 G=0.7629
Allele Frequency Aggregator Latin American 2 Sub 694 A=0.248 G=0.752
Allele Frequency Aggregator Latin American 1 Sub 160 A=0.256 G=0.744
Allele Frequency Aggregator Asian Sub 124 A=0.355 G=0.645
Allele Frequency Aggregator South Asian Sub 114 A=0.368 G=0.632
14KJPN JAPANESE Study-wide 28258 A=0.45516 G=0.54484
8.3KJPN JAPANESE Study-wide 16760 A=0.45650 G=0.54350
1000Genomes_30x Global Study-wide 6404 A=0.2783 G=0.7217
1000Genomes_30x African Sub 1786 A=0.1747 G=0.8253
1000Genomes_30x Europe Sub 1266 A=0.2101 G=0.7899
1000Genomes_30x South Asian Sub 1202 A=0.4093 G=0.5907
1000Genomes_30x East Asian Sub 1170 A=0.4051 G=0.5949
1000Genomes_30x American Sub 980 A=0.243 G=0.757
1000Genomes Global Study-wide 5008 A=0.2865 G=0.7135
1000Genomes African Sub 1322 A=0.1846 G=0.8154
1000Genomes East Asian Sub 1008 A=0.3998 G=0.6002
1000Genomes Europe Sub 1006 A=0.2137 G=0.7863
1000Genomes South Asian Sub 978 A=0.413 G=0.587
1000Genomes American Sub 694 A=0.244 G=0.756
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1752 G=0.8248
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.2203 G=0.7797
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.2325 G=0.7675
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.3679 G=0.6321
Korean Genome Project KOREAN Study-wide 1832 A=0.3734 G=0.6266
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.221 G=0.779
Northern Sweden ACPOP Study-wide 600 A=0.183 G=0.817
SGDP_PRJ Global Study-wide 500 A=0.218 G=0.782
Qatari Global Study-wide 216 A=0.282 G=0.718
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.434 G=0.566
Siberian Global Study-wide 52 A=0.15 G=0.85
The Danish reference pan genome Danish Study-wide 40 A=0.10 G=0.90
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 13 NC_000013.11:g.28450209A>G
GRCh37.p13 chr 13 NC_000013.10:g.29024346A>G
FLT1 RefSeqGene (LRG_425) NG_012003.1:g.49920T>C
Gene: FLT1, fms related receptor tyrosine kinase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FLT1 transcript variant 2 NM_001159920.2:c.389-1186…

NM_001159920.2:c.389-11864T>C

 		N/A Intron Variant
FLT1 transcript variant 3 NM_001160030.2:c.389-1186…

NM_001160030.2:c.389-11864T>C

 		N/A Intron Variant
FLT1 transcript variant 4 NM_001160031.1:c.389-1186…

NM_001160031.1:c.389-11864T>C

 		N/A Intron Variant
FLT1 transcript variant 1 NM_002019.4:c.389-11864T>C N/A Intron Variant
FLT1 transcript variant X2 XM_011535014.2:c.389-1186…

XM_011535014.2:c.389-11864T>C

 		N/A Intron Variant
FLT1 transcript variant X1 XM_017020485.1:c.389-1186…

XM_017020485.1:c.389-11864T>C

 		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 A= G
GRCh38.p14 chr 13 NC_000013.11:g.28450209= NC_000013.11:g.28450209A>G
GRCh37.p13 chr 13 NC_000013.10:g.29024346= NC_000013.10:g.29024346A>G
FLT1 RefSeqGene (LRG_425) NG_012003.1:g.49920= NG_012003.1:g.49920T>C
FLT1 transcript variant 2 NM_001159920.1:c.389-11864= NM_001159920.1:c.389-11864T>C
FLT1 transcript variant 2 NM_001159920.2:c.389-11864= NM_001159920.2:c.389-11864T>C
FLT1 transcript variant 3 NM_001160030.1:c.389-11864= NM_001160030.1:c.389-11864T>C
FLT1 transcript variant 3 NM_001160030.2:c.389-11864= NM_001160030.2:c.389-11864T>C
FLT1 transcript variant 4 NM_001160031.1:c.389-11864= NM_001160031.1:c.389-11864T>C
FLT1 transcript variant 1 NM_002019.4:c.389-11864= NM_002019.4:c.389-11864T>C
FLT1 transcript variant X2 XM_011535014.2:c.389-11864= XM_011535014.2:c.389-11864T>C
FLT1 transcript variant X1 XM_017020485.1:c.389-11864= XM_017020485.1:c.389-11864T>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#.

80 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13157372 Dec 05, 2003 (119)
2 BCMHGSC_JDW ss89557851 Mar 24, 2008 (129)
3 HUMANGENOME_JCVI ss97145355 Feb 06, 2009 (130)
4 BGI ss103106440 Dec 01, 2009 (131)
5 1000GENOMES ss112646271 Jan 25, 2009 (130)
6 1000GENOMES ss114464741 Jan 25, 2009 (130)
7 ENSEMBL ss133503593 Dec 01, 2009 (131)
8 GMI ss154581937 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss167788342 Jul 04, 2010 (132)
10 COMPLETE_GENOMICS ss169067505 Jul 04, 2010 (132)
11 COMPLETE_GENOMICS ss170929777 Jul 04, 2010 (132)
12 BUSHMAN ss199011288 Jul 04, 2010 (132)
13 BCM-HGSC-SUB ss208516057 Jul 04, 2010 (132)
14 1000GENOMES ss226098373 Jul 14, 2010 (132)
15 1000GENOMES ss236189931 Jul 15, 2010 (132)
16 1000GENOMES ss242697643 Jul 15, 2010 (132)
17 GMI ss281652488 May 04, 2012 (137)
18 GMI ss286675032 Apr 25, 2013 (138)
19 PJP ss291564553 May 09, 2011 (134)
20 ILLUMINA ss483173741 May 04, 2012 (137)
21 ILLUMINA ss483621610 May 04, 2012 (137)
22 ILLUMINA ss535825689 Sep 08, 2015 (146)
23 TISHKOFF ss563570695 Apr 25, 2013 (138)
24 SSMP ss659166499 Apr 25, 2013 (138)
25 ILLUMINA ss779512088 Sep 08, 2015 (146)
26 ILLUMINA ss782254158 Sep 08, 2015 (146)
27 ILLUMINA ss834982463 Sep 08, 2015 (146)
28 EVA-GONL ss990226999 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1078962584 Aug 21, 2014 (142)
30 1000GENOMES ss1347614579 Aug 21, 2014 (142)
31 DDI ss1427140022 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1576694016 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1629954320 Apr 01, 2015 (144)
34 EVA_DECODE ss1642331683 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1672948353 Apr 01, 2015 (144)
36 HAMMER_LAB ss1807541073 Sep 08, 2015 (146)
37 WEILL_CORNELL_DGM ss1933595875 Feb 12, 2016 (147)
38 GENOMED ss1967742970 Jul 19, 2016 (147)
39 JJLAB ss2027553532 Sep 14, 2016 (149)
40 USC_VALOUEV ss2155918232 Dec 20, 2016 (150)
41 HUMAN_LONGEVITY ss2195092079 Dec 20, 2016 (150)
42 SYSTEMSBIOZJU ss2628264963 Nov 08, 2017 (151)
43 ILLUMINA ss2633043639 Nov 08, 2017 (151)
44 GRF ss2700290420 Nov 08, 2017 (151)
45 GNOMAD ss2917930174 Nov 08, 2017 (151)
46 SWEGEN ss3010772279 Nov 08, 2017 (151)
47 BIOINF_KMB_FNS_UNIBA ss3027592293 Nov 08, 2017 (151)
48 CSHL ss3350381259 Nov 08, 2017 (151)
49 ILLUMINA ss3627029350 Oct 12, 2018 (152)
50 ILLUMINA ss3631047904 Oct 12, 2018 (152)
51 URBANLAB ss3649996174 Oct 12, 2018 (152)
52 EGCUT_WGS ss3678033049 Jul 13, 2019 (153)
53 EVA_DECODE ss3694989144 Jul 13, 2019 (153)
54 ACPOP ss3739611197 Jul 13, 2019 (153)
55 EVA ss3751274207 Jul 13, 2019 (153)
56 PACBIO ss3787413944 Jul 13, 2019 (153)
57 PACBIO ss3792486656 Jul 13, 2019 (153)
58 PACBIO ss3797370375 Jul 13, 2019 (153)
59 KHV_HUMAN_GENOMES ss3816605225 Jul 13, 2019 (153)
60 EVA ss3833466233 Apr 27, 2020 (154)
61 EVA ss3840310233 Apr 27, 2020 (154)
62 EVA ss3845794964 Apr 27, 2020 (154)
63 SGDP_PRJ ss3879658073 Apr 27, 2020 (154)
64 KRGDB ss3928479433 Apr 27, 2020 (154)
65 KOGIC ss3973265693 Apr 27, 2020 (154)
66 TOPMED ss4940954970 Apr 26, 2021 (155)
67 TOMMO_GENOMICS ss5209311014 Apr 26, 2021 (155)
68 1000G_HIGH_COVERAGE ss5293203934 Oct 16, 2022 (156)
69 EVA ss5315671420 Oct 16, 2022 (156)
70 EVA ss5409797235 Oct 16, 2022 (156)
71 HUGCELL_USP ss5487620177 Oct 16, 2022 (156)
72 1000G_HIGH_COVERAGE ss5591886614 Oct 16, 2022 (156)
73 SANFORD_IMAGENETICS ss5654463954 Oct 16, 2022 (156)
74 TOMMO_GENOMICS ss5760991060 Oct 16, 2022 (156)
75 YY_MCH ss5813977785 Oct 16, 2022 (156)
76 EVA ss5839265003 Oct 16, 2022 (156)
77 EVA ss5850661409 Oct 16, 2022 (156)
78 EVA ss5924492058 Oct 16, 2022 (156)
79 EVA ss5945870037 Oct 16, 2022 (156)
80 EVA ss5980782279 Oct 16, 2022 (156)
81 1000Genomes NC_000013.10 - 29024346 Oct 12, 2018 (152)
82 1000Genomes_30x NC_000013.11 - 28450209 Oct 16, 2022 (156)
83 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 29024346 Oct 12, 2018 (152)
84 Genetic variation in the Estonian population NC_000013.10 - 29024346 Oct 12, 2018 (152)
85 The Danish reference pan genome NC_000013.10 - 29024346 Apr 27, 2020 (154)
86 gnomAD - Genomes NC_000013.11 - 28450209 Apr 26, 2021 (155)
87 Genome of the Netherlands Release 5 NC_000013.10 - 29024346 Apr 27, 2020 (154)
88 KOREAN population from KRGDB NC_000013.10 - 29024346 Apr 27, 2020 (154)
89 Korean Genome Project NC_000013.11 - 28450209 Apr 27, 2020 (154)
90 Northern Sweden NC_000013.10 - 29024346 Jul 13, 2019 (153)
91 Qatari NC_000013.10 - 29024346 Apr 27, 2020 (154)
92 SGDP_PRJ NC_000013.10 - 29024346 Apr 27, 2020 (154)
93 Siberian NC_000013.10 - 29024346 Apr 27, 2020 (154)
94 8.3KJPN NC_000013.10 - 29024346 Apr 26, 2021 (155)
95 14KJPN NC_000013.11 - 28450209 Oct 16, 2022 (156)
96 TopMed NC_000013.11 - 28450209 Apr 26, 2021 (155)
97 UK 10K study - Twins NC_000013.10 - 29024346 Oct 12, 2018 (152)
98 A Vietnamese Genetic Variation Database NC_000013.10 - 29024346 Jul 13, 2019 (153)
99 ALFA NC_000013.11 - 28450209 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
ss89557851, ss112646271, ss114464741, ss167788342, ss169067505, ss170929777, ss199011288, ss208516057, ss281652488, ss286675032, ss291564553, ss483173741, ss1642331683 NC_000013.9:27922345:A:G NC_000013.11:28450208:A:G (self)
60462813, 33580863, 23771297, 3233809, 14983516, 35656827, 12896062, 15637805, 31675053, 8434586, 67280321, 33580863, 7448948, ss226098373, ss236189931, ss242697643, ss483621610, ss535825689, ss563570695, ss659166499, ss779512088, ss782254158, ss834982463, ss990226999, ss1078962584, ss1347614579, ss1427140022, ss1576694016, ss1629954320, ss1672948353, ss1807541073, ss1933595875, ss1967742970, ss2027553532, ss2155918232, ss2628264963, ss2633043639, ss2700290420, ss2917930174, ss3010772279, ss3350381259, ss3627029350, ss3631047904, ss3678033049, ss3739611197, ss3751274207, ss3787413944, ss3792486656, ss3797370375, ss3833466233, ss3840310233, ss3879658073, ss3928479433, ss5209311014, ss5315671420, ss5409797235, ss5654463954, ss5839265003, ss5945870037, ss5980782279 NC_000013.10:29024345:A:G NC_000013.11:28450208:A:G (self)
79412549, 426348869, 29643694, 94828164, 156500628, 726834172, ss2195092079, ss3027592293, ss3649996174, ss3694989144, ss3816605225, ss3845794964, ss3973265693, ss4940954970, ss5293203934, ss5487620177, ss5591886614, ss5760991060, ss5813977785, ss5850661409, ss5924492058 NC_000013.11:28450208:A:G NC_000013.11:28450208:A:G (self)
ss13157372 NT_009799.12:10004345:A:G NC_000013.11:28450208:A:G (self)
ss97145355, ss103106440, ss133503593, ss154581937 NT_024524.14:10004345:A:G NC_000013.11:28450208: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 rs9505994

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