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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.

rs375356111

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:48688928 (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=0.000408 (108/264690, TOPMED)
A=0.000279 (28/100184, GnomAD)
A=0.00039 (39/99799, GnomAD_exome) (+ 3 more)
A=0.00065 (15/23022, ALFA)
A=0.0002 (2/9460, GO-ESP)
A=0.0007 (6/8359, ExAC)
Clinical Significance
Reported in ClinVar
Gene : Consequence
WAS : Synonymous 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 23022 G=0.99935 A=0.00065
European Sub 15742 G=0.99911 A=0.00089
African Sub 3492 G=1.0000 A=0.0000
African Others Sub 122 G=1.000 A=0.000
African American Sub 3370 G=1.0000 A=0.0000
Asian Sub 168 G=1.000 A=0.000
East Asian Sub 112 G=1.000 A=0.000
Other Asian Sub 56 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 610 G=1.000 A=0.000
South Asian Sub 98 G=1.00 A=0.00
Other Sub 2766 G=0.9996 A=0.0004


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=0.999592 A=0.000408
gnomAD - Genomes Global Study-wide 100184 G=0.999721 A=0.000279
gnomAD - Genomes European Sub 54654 G=0.99960 A=0.00040
gnomAD - Genomes African Sub 30265 G=0.99993 A=0.00007
gnomAD - Genomes American Sub 9143 G=0.9998 A=0.0002
gnomAD - Genomes Ashkenazi Jewish Sub 2448 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 2153 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 1521 G=0.9987 A=0.0013
gnomAD - Exomes Global Study-wide 99799 G=0.99961 A=0.00039
gnomAD - Exomes European Sub 47258 G=0.99928 A=0.00072
gnomAD - Exomes Asian Sub 19699 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 19000 G=0.99979 A=0.00021
gnomAD - Exomes African Sub 6155 G=1.0000 A=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 4827 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 2860 G=0.9997 A=0.0003
Allele Frequency Aggregator Total Global 23022 G=0.99935 A=0.00065
Allele Frequency Aggregator European Sub 15742 G=0.99911 A=0.00089
Allele Frequency Aggregator African Sub 3492 G=1.0000 A=0.0000
Allele Frequency Aggregator Other Sub 2766 G=0.9996 A=0.0004
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 168 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00
GO Exome Sequencing Project Global Study-wide 9460 G=0.9998 A=0.0002
GO Exome Sequencing Project European American Sub 6016 G=0.9997 A=0.0003
GO Exome Sequencing Project African American Sub 3444 G=1.0000 A=0.0000
ExAC Global Study-wide 8359 G=0.9993 A=0.0007
ExAC Europe Sub 4539 G=0.9987 A=0.0013
ExAC Asian Sub 2295 G=1.0000 A=0.0000
ExAC African Sub 1001 G=1.0000 A=0.0000
ExAC American Sub 456 G=1.000 A=0.000
ExAC Other Sub 68 G=1.00 A=0.00
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 X NC_000023.11:g.48688928G>A
GRCh38.p14 chr X NC_000023.11:g.48688928G>C
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.928357G>A
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.928357G>C
WAS RefSeqGene (LRG_125) NG_007877.1:g.10132G>A
WAS RefSeqGene (LRG_125) NG_007877.1:g.10132G>C
GRCh37.p13 chr X NC_000023.10:g.48547317G>A
GRCh37.p13 chr X NC_000023.10:g.48547317G>C
Gene: WAS, WASP actin nucleation promoting factor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
WAS transcript NM_000377.3:c.1200G>A P [CCG] > P [CCA] Coding Sequence Variant
actin nucleation-promoting factor WAS NP_000368.1:p.Pro400= P (Pro) > P (Pro) Synonymous Variant
WAS transcript NM_000377.3:c.1200G>C P [CCG] > P [CCC] Coding Sequence Variant
actin nucleation-promoting factor WAS NP_000368.1:p.Pro400= P (Pro) > P (Pro) Synonymous Variant
WAS transcript variant X1 XM_017029786.2:c.1200G>A P [CCG] > P [CCA] Coding Sequence Variant
actin nucleation-promoting factor WAS isoform X1 XP_016885275.1:p.Pro400= P (Pro) > P (Pro) Synonymous Variant
WAS transcript variant X1 XM_017029786.2:c.1200G>C P [CCG] > P [CCC] Coding Sequence Variant
actin nucleation-promoting factor WAS isoform X1 XP_016885275.1:p.Pro400= P (Pro) > P (Pro) Synonymous Variant
WAS transcript variant X2 XM_047442432.1:c.1200G>A P [CCG] > P [CCA] Coding Sequence Variant
actin nucleation-promoting factor WAS isoform X1 XP_047298388.1:p.Pro400= P (Pro) > P (Pro) Synonymous Variant
WAS transcript variant X2 XM_047442432.1:c.1200G>C P [CCG] > P [CCC] Coding Sequence Variant
actin nucleation-promoting factor WAS isoform X1 XP_047298388.1:p.Pro400= P (Pro) > P (Pro) Synonymous Variant
WAS transcript variant X3 XM_047442433.1:c.1044G>A P [CCG] > P [CCA] Coding Sequence Variant
actin nucleation-promoting factor WAS isoform X2 XP_047298389.1:p.Pro348= P (Pro) > P (Pro) Synonymous Variant
WAS transcript variant X3 XM_047442433.1:c.1044G>C P [CCG] > P [CCC] Coding Sequence Variant
actin nucleation-promoting factor WAS isoform X2 XP_047298389.1:p.Pro348= P (Pro) > P (Pro) Synonymous Variant
WAS transcript variant X4 XM_047442434.1:c.1200G>A P [CCG] > P [CCA] Coding Sequence Variant
actin nucleation-promoting factor WAS isoform X3 XP_047298390.1:p.Pro400= P (Pro) > P (Pro) Synonymous Variant
WAS transcript variant X4 XM_047442434.1:c.1200G>C P [CCG] > P [CCC] Coding Sequence Variant
actin nucleation-promoting factor WAS isoform X3 XP_047298390.1:p.Pro400= P (Pro) > P (Pro) Synonymous Variant
WAS transcript variant X5 XM_011543977.3:c.1044G>A P [CCG] > P [CCA] Coding Sequence Variant
actin nucleation-promoting factor WAS isoform X4 XP_011542279.1:p.Pro348= P (Pro) > P (Pro) Synonymous Variant
WAS transcript variant X5 XM_011543977.3:c.1044G>C P [CCG] > P [CCC] Coding Sequence Variant
actin nucleation-promoting factor WAS isoform X4 XP_011542279.1:p.Pro348= P (Pro) > P (Pro) Synonymous 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.

Allele: A (allele ID: 380066 )
ClinVar Accession Disease Names Clinical Significance
RCV000417423.4 not specified Benign-Likely-Benign
RCV000862326.7 Thrombocytopenia 1,Wiskott-Aldrich syndrome,X-linked severe congenital neutropenia Benign
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 X NC_000023.11:g.48688928= NC_000023.11:g.48688928G>A NC_000023.11:g.48688928G>C
GRCh37.p13 chr X fix patch HG1436_HG1432_PATCH NW_004070880.2:g.928357= NW_004070880.2:g.928357G>A NW_004070880.2:g.928357G>C
WAS RefSeqGene (LRG_125) NG_007877.1:g.10132= NG_007877.1:g.10132G>A NG_007877.1:g.10132G>C
WAS transcript NM_000377.3:c.1200= NM_000377.3:c.1200G>A NM_000377.3:c.1200G>C
WAS transcript NM_000377.2:c.1200= NM_000377.2:c.1200G>A NM_000377.2:c.1200G>C
GRCh37.p13 chr X NC_000023.10:g.48547317= NC_000023.10:g.48547317G>A NC_000023.10:g.48547317G>C
WAS transcript variant X5 XM_011543977.3:c.1044= XM_011543977.3:c.1044G>A XM_011543977.3:c.1044G>C
WAS transcript variant X1 XM_011543977.2:c.1044= XM_011543977.2:c.1044G>A XM_011543977.2:c.1044G>C
WAS transcript variant X1 XM_011543977.1:c.1044= XM_011543977.1:c.1044G>A XM_011543977.1:c.1044G>C
WAS transcript variant X1 XM_017029786.2:c.1200= XM_017029786.2:c.1200G>A XM_017029786.2:c.1200G>C
WAS transcript variant X2 XM_017029786.1:c.1200= XM_017029786.1:c.1200G>A XM_017029786.1:c.1200G>C
WAS transcript variant X2 XM_047442432.1:c.1200= XM_047442432.1:c.1200G>A XM_047442432.1:c.1200G>C
WAS transcript variant X3 XM_047442433.1:c.1044= XM_047442433.1:c.1044G>A XM_047442433.1:c.1044G>C
WAS transcript variant X4 XM_047442434.1:c.1200= XM_047442434.1:c.1200G>A XM_047442434.1:c.1200G>C
actin nucleation-promoting factor WAS NP_000368.1:p.Pro400= NP_000368.1:p.Pro400= NP_000368.1:p.Pro400=
actin nucleation-promoting factor WAS isoform X4 XP_011542279.1:p.Pro348= XP_011542279.1:p.Pro348= XP_011542279.1:p.Pro348=
actin nucleation-promoting factor WAS isoform X1 XP_016885275.1:p.Pro400= XP_016885275.1:p.Pro400= XP_016885275.1:p.Pro400=
actin nucleation-promoting factor WAS isoform X1 XP_047298388.1:p.Pro400= XP_047298388.1:p.Pro400= XP_047298388.1:p.Pro400=
actin nucleation-promoting factor WAS isoform X2 XP_047298389.1:p.Pro348= XP_047298389.1:p.Pro348= XP_047298389.1:p.Pro348=
actin nucleation-promoting factor WAS isoform X3 XP_047298390.1:p.Pro400= XP_047298390.1:p.Pro400= XP_047298390.1:p.Pro400=
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#.

12 SubSNP, 6 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss713650609 Apr 25, 2013 (138)
2 EVA_EXAC ss1694509574 Apr 09, 2015 (144)
3 HUMAN_LONGEVITY ss2317233942 Dec 20, 2016 (150)
4 GNOMAD ss2745387207 Oct 13, 2018 (152)
5 GNOMAD ss2746100228 Oct 13, 2018 (152)
6 GNOMAD ss2978612523 Oct 13, 2018 (152)
7 SWEGEN ss3019938828 Oct 13, 2018 (152)
8 EVA ss3825483999 Apr 27, 2020 (154)
9 GNOMAD ss4371180459 Apr 26, 2021 (155)
10 TOPMED ss5122189755 Apr 26, 2021 (155)
11 TRAN_CS_UWATERLOO ss5314459394 Oct 16, 2022 (156)
12 HUGCELL_USP ss5504156175 Oct 16, 2022 (156)
13 ExAC NC_000023.10 - 48547317 Oct 13, 2018 (152)
14 gnomAD - Genomes NC_000023.11 - 48688928 Apr 26, 2021 (155)
15 gnomAD - Exomes NC_000023.10 - 48547317 Jul 13, 2019 (153)
16 GO Exome Sequencing Project NC_000023.10 - 48547317 Oct 13, 2018 (152)
17 TopMed NC_000023.11 - 48688928 Apr 26, 2021 (155)
18 ALFA NC_000023.11 - 48688928 Apr 26, 2021 (155)
19 ClinVar RCV000417423.4 Oct 16, 2022 (156)
20 ClinVar RCV000862326.7 Oct 16, 2022 (156)
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
10010712, 14722099, 1940791, ss713650609, ss1694509574, ss2745387207, ss2746100228, ss2978612523, ss3019938828, ss3825483999 NC_000023.10:48547316:G:A NC_000023.11:48688927:G:A (self)
RCV000417423.4, RCV000862326.7, 580210784, 685796112, 39112687, ss2317233942, ss4371180459, ss5122189755, ss5504156175 NC_000023.11:48688927:G:A NC_000023.11:48688927:G:A (self)
ss5314459394 NC_000023.11:48688927:G:C NC_000023.11:48688927:G:C
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 rs375356111

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