rs193922414

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs193922414(C;T)

Make rs193922414(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48685583

Gene

WAS

is a	snp
is	mentioned by
dbSNP	rs193922414
dbSNP (classic)	rs193922414
ClinGen	rs193922414
ebi	rs193922414
HLI	rs193922414
Exac	rs193922414
Gnomad	rs193922414
Varsome	rs193922414
LitVar	rs193922414
Map	rs193922414
PheGenI	rs193922414
Biobank	rs193922414
1000 genomes	rs193922414
hgdp	rs193922414
ensembl	rs193922414
geneview	rs193922414
scholar	rs193922414
google	rs193922414
pharmgkb	rs193922414
gwascentral	rs193922414
openSNP	rs193922414
23andMe	rs193922414
SNPshot	rs193922414
SNPdbe	rs193922414
MSV3d	rs193922414
GWAS Ctlg	rs193922414

Max Magnitude

0

ClinVar
Risk	rs193922414(G;G) rs193922414(T;T)
Alt	rs193922414(G;G) rs193922414(T;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.