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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.

rs150665432

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:45212334 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.003204 (848/264690, TOPMED)
A=0.003614 (895/247624, GnomAD_exome)
A=0.004795 (878/183090, ALFA) (+ 14 more)
A=0.003108 (436/140296, GnomAD)
A=0.003846 (450/116990, ExAC)
A=0.00216 (169/78240, PAGE_STUDY)
A=0.00292 (38/13002, GO-ESP)
A=0.0016 (10/6404, 1000G_30x)
A=0.0020 (10/5008, 1000G)
A=0.0011 (5/4480, Estonian)
A=0.0049 (19/3854, ALSPAC)
A=0.0040 (15/3708, TWINSUK)
A=0.001 (1/998, GoNL)
A=0.001 (1/792, PRJEB37584)
A=0.002 (1/600, NorthernSweden)
G=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KIAA0930 : Stop Gained
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 199440 G=0.995297 A=0.004703
European Sub 171838 G=0.994908 A=0.005092
African Sub 9790 G=0.9988 A=0.0012
African Others Sub 360 G=1.000 A=0.000
African American Sub 9430 G=0.9987 A=0.0013
Asian Sub 3418 G=1.0000 A=0.0000
East Asian Sub 2736 G=1.0000 A=0.0000
Other Asian Sub 682 G=1.000 A=0.000
Latin American 1 Sub 796 G=0.995 A=0.005
Latin American 2 Sub 968 G=0.999 A=0.001
South Asian Sub 280 G=0.996 A=0.004
Other Sub 12350 G=0.99636 A=0.00364


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=0.996796 A=0.003204
gnomAD - Exomes Global Study-wide 247624 G=0.996386 A=0.003614
gnomAD - Exomes European Sub 132396 G=0.994962 A=0.005038
gnomAD - Exomes Asian Sub 48896 G=0.99863 A=0.00137
gnomAD - Exomes American Sub 34476 G=0.99817 A=0.00183
gnomAD - Exomes African Sub 15886 G=0.99937 A=0.00063
gnomAD - Exomes Ashkenazi Jewish Sub 9924 G=0.9941 A=0.0059
gnomAD - Exomes Other Sub 6046 G=0.9952 A=0.0048
Allele Frequency Aggregator Total Global 183090 G=0.995205 A=0.004795
Allele Frequency Aggregator European Sub 161758 G=0.994900 A=0.005100
Allele Frequency Aggregator Other Sub 10918 G=0.99652 A=0.00348
Allele Frequency Aggregator African Sub 4952 G=0.9982 A=0.0018
Allele Frequency Aggregator Asian Sub 3418 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 968 G=0.999 A=0.001
Allele Frequency Aggregator Latin American 1 Sub 796 G=0.995 A=0.005
Allele Frequency Aggregator South Asian Sub 280 G=0.996 A=0.004
gnomAD - Genomes Global Study-wide 140296 G=0.996892 A=0.003108
gnomAD - Genomes European Sub 75958 G=0.99535 A=0.00465
gnomAD - Genomes African Sub 42060 G=0.99919 A=0.00081
gnomAD - Genomes American Sub 13668 G=0.99802 A=0.00198
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9958 A=0.0042
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.9963 A=0.0037
ExAC Global Study-wide 116990 G=0.996154 A=0.003846
ExAC Europe Sub 70390 G=0.99445 A=0.00555
ExAC Asian Sub 24750 G=0.99871 A=0.00129
ExAC American Sub 11360 G=0.99859 A=0.00141
ExAC African Sub 9614 G=0.9992 A=0.0008
ExAC Other Sub 876 G=0.997 A=0.003
The PAGE Study Global Study-wide 78240 G=0.99784 A=0.00216
The PAGE Study AfricanAmerican Sub 32164 G=0.99882 A=0.00118
The PAGE Study Mexican Sub 10792 G=0.99620 A=0.00380
The PAGE Study Asian Sub 8300 G=0.9999 A=0.0001
The PAGE Study PuertoRican Sub 7898 G=0.9970 A=0.0030
The PAGE Study NativeHawaiian Sub 4498 G=0.9973 A=0.0027
The PAGE Study Cuban Sub 4220 G=0.9950 A=0.0050
The PAGE Study Dominican Sub 3822 G=0.9984 A=0.0016
The PAGE Study CentralAmerican Sub 2450 G=0.9984 A=0.0016
The PAGE Study SouthAmerican Sub 1982 G=0.9939 A=0.0061
The PAGE Study NativeAmerican Sub 1260 G=0.9937 A=0.0063
The PAGE Study SouthAsian Sub 854 G=0.998 A=0.002
GO Exome Sequencing Project Global Study-wide 13002 G=0.99708 A=0.00292
GO Exome Sequencing Project European American Sub 8598 G=0.9959 A=0.0041
GO Exome Sequencing Project African American Sub 4404 G=0.9993 A=0.0007
1000Genomes_30x Global Study-wide 6404 G=0.9984 A=0.0016
1000Genomes_30x African Sub 1786 G=0.9989 A=0.0011
1000Genomes_30x Europe Sub 1266 G=0.9968 A=0.0032
1000Genomes_30x South Asian Sub 1202 G=0.9983 A=0.0017
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.998 A=0.002
1000Genomes Global Study-wide 5008 G=0.9980 A=0.0020
1000Genomes African Sub 1322 G=0.9985 A=0.0015
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9960 A=0.0040
1000Genomes South Asian Sub 978 G=0.998 A=0.002
1000Genomes American Sub 694 G=0.997 A=0.003
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9989 A=0.0011
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9951 A=0.0049
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9960 A=0.0040
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.999 A=0.001
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.999 A=0.001
CNV burdens in cranial meningiomas CRM Sub 792 G=0.999 A=0.001
Northern Sweden ACPOP Study-wide 600 G=0.998 A=0.002
SGDP_PRJ Global Study-wide 2 G=0.5 A=0.5
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 22 NC_000022.11:g.45212334G>A
GRCh37.p13 chr 22 NC_000022.10:g.45608215G>A
Gene: KIAA0930, KIAA0930 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KIAA0930 transcript variant 2 NM_001009880.2:c.65-227C>T N/A Intron Variant
KIAA0930 transcript variant 1 NM_015264.2:c.10C>T Q [CAG] > * [TAG] Coding Sequence Variant
uncharacterized protein KIAA0930 isoform a NP_056079.1:p.Gln4Ter Q (Gln) > * (Ter) Stop Gained
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
GRCh38.p14 chr 22 NC_000022.11:g.45212334= NC_000022.11:g.45212334G>A
GRCh37.p13 chr 22 NC_000022.10:g.45608215= NC_000022.10:g.45608215G>A
KIAA0930 transcript variant 1 NM_015264.2:c.10= NM_015264.2:c.10C>T
KIAA0930 transcript variant 1 NM_015264.1:c.10= NM_015264.1:c.10C>T
uncharacterized protein KIAA0930 isoform a NP_056079.1:p.Gln4= NP_056079.1:p.Gln4Ter
KIAA0930 transcript variant 2 NM_001009880.1:c.65-227= NM_001009880.1:c.65-227C>T
KIAA0930 transcript variant 2 NM_001009880.2:c.65-227= NM_001009880.2:c.65-227C>T
KIAA0930 transcript variant X1 XM_005261404.1:c.11-227= XM_005261404.1:c.11-227C>T
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#.

55 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss341215171 May 09, 2011 (134)
2 NHLBI-ESP ss342545874 May 09, 2011 (134)
3 1000GENOMES ss491195245 May 04, 2012 (137)
4 EXOME_CHIP ss491573163 May 04, 2012 (137)
5 CLINSEQ_SNP ss491826529 May 04, 2012 (137)
6 ILLUMINA ss780763645 Sep 08, 2015 (146)
7 ILLUMINA ss783442798 Sep 08, 2015 (146)
8 EVA-GONL ss995421972 Aug 21, 2014 (142)
9 1000GENOMES ss1367439877 Aug 21, 2014 (142)
10 EVA_UK10K_ALSPAC ss1640137758 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1683131791 Apr 01, 2015 (144)
12 EVA_EXAC ss1694397256 Apr 01, 2015 (144)
13 EVA_DECODE ss1699493304 Apr 01, 2015 (144)
14 ILLUMINA ss1752424869 Sep 08, 2015 (146)
15 ILLUMINA ss1917957132 Feb 12, 2016 (147)
16 ILLUMINA ss1946598172 Feb 12, 2016 (147)
17 ILLUMINA ss1959987250 Feb 12, 2016 (147)
18 HUMAN_LONGEVITY ss2247890232 Dec 20, 2016 (150)
19 ILLUMINA ss2710960853 Nov 08, 2017 (151)
20 GNOMAD ss2745217752 Nov 08, 2017 (151)
21 GNOMAD ss2750580465 Nov 08, 2017 (151)
22 GNOMAD ss2975185874 Nov 08, 2017 (151)
23 AFFY ss2985241678 Nov 08, 2017 (151)
24 SWEGEN ss3019419581 Nov 08, 2017 (151)
25 ILLUMINA ss3022194144 Nov 08, 2017 (151)
26 CSHL ss3352869421 Nov 08, 2017 (151)
27 ILLUMINA ss3634871992 Oct 12, 2018 (152)
28 ILLUMINA ss3640579295 Oct 12, 2018 (152)
29 ILLUMINA ss3644802945 Oct 12, 2018 (152)
30 OMUKHERJEE_ADBS ss3646568928 Oct 12, 2018 (152)
31 ILLUMINA ss3652658735 Oct 12, 2018 (152)
32 ILLUMINA ss3654010015 Oct 12, 2018 (152)
33 EGCUT_WGS ss3685908843 Jul 13, 2019 (153)
34 EVA_DECODE ss3708341329 Jul 13, 2019 (153)
35 ILLUMINA ss3725975220 Jul 13, 2019 (153)
36 ACPOP ss3743993577 Jul 13, 2019 (153)
37 ILLUMINA ss3744504437 Jul 13, 2019 (153)
38 ILLUMINA ss3745171836 Jul 13, 2019 (153)
39 EVA ss3759467847 Jul 13, 2019 (153)
40 PAGE_CC ss3772096993 Jul 13, 2019 (153)
41 ILLUMINA ss3772667673 Jul 13, 2019 (153)
42 EVA ss3825458817 Apr 27, 2020 (154)
43 SGDP_PRJ ss3890697342 Apr 27, 2020 (154)
44 EVA ss3984761736 Apr 27, 2021 (155)
45 EVA ss3986868455 Apr 27, 2021 (155)
46 TOPMED ss5111649151 Apr 27, 2021 (155)
47 1000G_HIGH_COVERAGE ss5311349461 Oct 16, 2022 (156)
48 EVA ss5441756668 Oct 16, 2022 (156)
49 HUGCELL_USP ss5503167137 Oct 16, 2022 (156)
50 1000G_HIGH_COVERAGE ss5619019027 Oct 16, 2022 (156)
51 SANFORD_IMAGENETICS ss5664630003 Oct 16, 2022 (156)
52 EVA ss5822169102 Oct 16, 2022 (156)
53 EVA ss5847947645 Oct 16, 2022 (156)
54 EVA ss5882098128 Oct 16, 2022 (156)
55 EVA ss5959488314 Oct 16, 2022 (156)
56 1000Genomes NC_000022.10 - 45608215 Oct 12, 2018 (152)
57 1000Genomes_30x NC_000022.11 - 45212334 Oct 16, 2022 (156)
58 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 45608215 Oct 12, 2018 (152)
59 Genetic variation in the Estonian population NC_000022.10 - 45608215 Oct 12, 2018 (152)
60 ExAC NC_000022.10 - 45608215 Oct 12, 2018 (152)
61 gnomAD - Genomes NC_000022.11 - 45212334 Apr 27, 2021 (155)
62 gnomAD - Exomes NC_000022.10 - 45608215 Jul 13, 2019 (153)
63 GO Exome Sequencing Project NC_000022.10 - 45608215 Oct 12, 2018 (152)
64 Genome of the Netherlands Release 5 NC_000022.10 - 45608215 Apr 27, 2020 (154)
65 Northern Sweden NC_000022.10 - 45608215 Jul 13, 2019 (153)
66 The PAGE Study NC_000022.11 - 45212334 Jul 13, 2019 (153)
67 CNV burdens in cranial meningiomas NC_000022.10 - 45608215 Apr 27, 2021 (155)
68 SGDP_PRJ NC_000022.10 - 45608215 Apr 27, 2020 (154)
69 TopMed NC_000022.11 - 45212334 Apr 27, 2021 (155)
70 UK 10K study - Twins NC_000022.10 - 45608215 Oct 12, 2018 (152)
71 ALFA NC_000022.11 - 45212334 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491826529, ss1699493304 NC_000022.9:43986878:G:A NC_000022.11:45212333:G:A (self)
81002050, 44807199, 31647091, 5981888, 14551790, 1915639, 19962513, 17278442, 311328, 42714322, 44807199, ss341215171, ss342545874, ss491195245, ss491573163, ss780763645, ss783442798, ss995421972, ss1367439877, ss1640137758, ss1683131791, ss1694397256, ss1752424869, ss1917957132, ss1946598172, ss1959987250, ss2710960853, ss2745217752, ss2750580465, ss2975185874, ss2985241678, ss3019419581, ss3022194144, ss3352869421, ss3634871992, ss3640579295, ss3644802945, ss3646568928, ss3652658735, ss3654010015, ss3685908843, ss3743993577, ss3744504437, ss3745171836, ss3759467847, ss3772667673, ss3825458817, ss3890697342, ss3984761736, ss3986868455, ss5441756668, ss5664630003, ss5822169102, ss5847947645, ss5959488314 NC_000022.10:45608214:G:A NC_000022.11:45212333:G:A (self)
106544962, 572000961, 1318462, 386758098, 11218621675, ss2247890232, ss3708341329, ss3725975220, ss3772096993, ss5111649151, ss5311349461, ss5503167137, ss5619019027, ss5882098128 NC_000022.11:45212333:G:A NC_000022.11:45212333:G:A (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 rs150665432

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