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rs1057517845

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517845(A;A)
Make rs1057517845(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position48688097
GeneWAS
is asnp
is mentioned by
dbSNPrs1057517845
dbSNP (old)rs1057517845
ClinGenrs1057517845
ebirs1057517845
HLIrs1057517845
Exacrs1057517845
Gnomadrs1057517845
Varsomers1057517845
LitVarrs1057517845
Maprs1057517845
PheGenIrs1057517845
Biobankrs1057517845
1000 genomesrs1057517845
hgdprs1057517845
ensemblrs1057517845
gopubmedrs1057517845
geneviewrs1057517845
scholarrs1057517845
googlers1057517845
pharmgkbrs1057517845
gwascentralrs1057517845
openSNPrs1057517845
23andMers1057517845
23andMe allrs1057517845
SNPshotrs1057517845
SNPdbers1057517845
MSV3drs1057517845
GWAS Ctlgrs1057517845
Max Magnitude0
ClinVar
Risk rs1057517845(A;A)
Alt rs1057517845(A;A)
Reference Rs1057517845(G;G)
Significance Pathogenic
Disease not provided Severe congenital neutropenia X-linked Thrombocytopenia Wiskott-Aldrich syndrome
Variation info
Gene WAS
CLNDBN not provided Severe congenital neutropenia X-linked Thrombocytopenia, X-linked Wiskott-Aldrich syndrome
Reversed 0
HGVS NC_000023.10:g.48546486G>A
CLNSRC
CLNACC RCV000413782.1, RCV000461952.1,