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rs587776743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587776743(-;ACGAGG)
Make rs587776743(ACGAGG;ACGAGG)
ReferenceGRCh38 38.1/142
ChromosomeX
Position48685773
GeneWAS
is asnp
is mentioned by
dbSNPrs587776743
dbSNP (classic)rs587776743
ClinGenrs587776743
ebirs587776743
HLIrs587776743
Exacrs587776743
Gnomadrs587776743
Varsomers587776743
LitVarrs587776743
Maprs587776743
PheGenIrs587776743
Biobankrs587776743
1000 genomesrs587776743
hgdprs587776743
ensemblrs587776743
geneviewrs587776743
scholarrs587776743
googlers587776743
pharmgkbrs587776743
gwascentralrs587776743
openSNPrs587776743
23andMers587776743
SNPshotrs587776743
SNPdbers587776743
MSV3drs587776743
GWAS Ctlgrs587776743
Max Magnitude0
ClinVar
Risk rs587776743(GACGAG;GACGAG)
Alt rs587776743(GACGAG;GACGAG)
Reference Rs587776743(-;-)
Significance Pathogenic
Disease Wiskott-Aldrich syndrome
Variation info
Gene WAS
CLNDBN Wiskott-Aldrich syndrome
Reversed 0
HGVS NC_000023.10:g.48544157_48544162dupACGAGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000011870.6,