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rs587776723

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587776723(-;-)
Make rs587776723(-;A)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position15324663
GenePIGA
is asnp
is mentioned by
dbSNPrs587776723
dbSNP (classic)rs587776723
ClinGenrs587776723
ebirs587776723
HLIrs587776723
Exacrs587776723
Gnomadrs587776723
Varsomers587776723
LitVarrs587776723
Maprs587776723
PheGenIrs587776723
Biobankrs587776723
1000 genomesrs587776723
hgdprs587776723
ensemblrs587776723
geneviewrs587776723
scholarrs587776723
googlers587776723
pharmgkbrs587776723
gwascentralrs587776723
openSNPrs587776723
23andMers587776723
SNPshotrs587776723
SNPdbers587776723
MSV3drs587776723
GWAS Ctlgrs587776723
Max Magnitude0
ClinVar
Risk Rs587776723(A;A) rs587776723(-;-)
Alt Rs587776723(A;A) rs587776723(-;-)
Reference Rs587776723(T;T)
Significance Pathogenic
Disease Paroxysmal nocturnal hemoglobinuria 1
Variation info
Gene PIGA
CLNDBN Paroxysmal nocturnal hemoglobinuria 1
Reversed 1
HGVS NC_000023.10:g.15342785delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000010635.3,