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rs193922415

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922415(C;T)
Make rs193922415(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48683890
GeneWAS
is asnp
is mentioned by
dbSNPrs193922415
ebirs193922415
HLIrs193922415
Exacrs193922415
Varsomers193922415
Maprs193922415
PheGenIrs193922415
hapmaprs193922415
1000 genomesrs193922415
hgdprs193922415
ensemblrs193922415
gopubmedrs193922415
geneviewrs193922415
scholarrs193922415
googlers193922415
pharmgkbrs193922415
gwascentralrs193922415
openSNPrs193922415
23andMers193922415
23andMe allrs193922415
SNP Nexus

SNPshotrs193922415
SNPdbers193922415
MSV3drs193922415
GWAS Ctlgrs193922415
Max Magnitude0
ClinVar
Risk rs193922415(T;T)
Alt rs193922415(T;T)
Reference rs193922415(C;C)
Significance Pathogenic
Disease Wiskott-Aldrich syndrome
Variation info
Gene WAS
CLNDBN Wiskott-Aldrich syndrome
Reversed 0
HGVS NC_000023.10:g.48542279C>T
CLNSRC ClinVar
CLNACC RCV000030595.1,


[PMID 12969986] Clinical course of patients with WASP gene mutations.


[PMID 17400488] Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.


[PMID 17703096] Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan.


[PMID 18162713OA-icon.png] A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene.