Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922414

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922414(C;T)
Make rs193922414(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position48685583
GeneWAS
is asnp
is mentioned by
dbSNPrs193922414
ebirs193922414
HLIrs193922414
Exacrs193922414
Varsomers193922414
Maprs193922414
PheGenIrs193922414
hapmaprs193922414
1000 genomesrs193922414
hgdprs193922414
ensemblrs193922414
gopubmedrs193922414
geneviewrs193922414
scholarrs193922414
googlers193922414
pharmgkbrs193922414
gwascentralrs193922414
openSNPrs193922414
23andMers193922414
23andMe allrs193922414
SNP Nexus

SNPshotrs193922414
SNPdbers193922414
MSV3drs193922414
GWAS Ctlgrs193922414
Max Magnitude0
ClinVar
Risk rs193922414(G,T;G,T)
Alt rs193922414(G,T;G,T)
Reference rs193922414(C;C)
Significance Probable-Pathogenic
Disease Wiskott-Aldrich syndrome
Variation info
Gene WAS
CLNDBN Wiskott-Aldrich syndrome
Reversed 0
HGVS NC_000023.10:g.48543972C>T
CLNSRC ClinVar
CLNACC RCV000030594.1,


[PMID 10737997] Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome.