rs132630269

Orientation

plus

Stabilized

plus

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

Make rs132630269(C;T)

Make rs132630269(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

48684317

Gene

WAS

is a	snp
is	mentioned by
dbSNP	rs132630269
dbSNP (classic)	rs132630269
ClinGen	rs132630269
ebi	rs132630269
HLI	rs132630269
Exac	rs132630269
Gnomad	rs132630269
Varsome	rs132630269
LitVar	rs132630269
Map	rs132630269
PheGenI	rs132630269
Biobank	rs132630269
1000 genomes	rs132630269
hgdp	rs132630269
ensembl	rs132630269
geneview	rs132630269
scholar	rs132630269
google	rs132630269
pharmgkb	rs132630269
gwascentral	rs132630269
openSNP	rs132630269
23andMe	rs132630269
SNPshot	rs132630269
SNPdbe	rs132630269
MSV3d	rs132630269
GWAS Ctlg	rs132630269

Max Magnitude

0

OMIM	300392
Desc
Variant	0004
Related	also

ClinVar
Risk	rs132630269(T;T)
Alt	rs132630269(T;T)
Reference	Rs132630269(C;C)
Significance	Pathogenic
Disease	Thrombocytopenia
Variation	info
Gene	WAS
CLNDBN	Thrombocytopenia, X-linked
Reversed	0
HGVS	NC_000023.10:g.48542706C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011865.17,