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rs587776727

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
(I;I) 0 common genotype
Make rs587776727(-;-)
Make rs587776727(-;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position15331500
GenePIGA
is asnp
is mentioned by
dbSNPrs587776727
dbSNP (classic)rs587776727
ClinGenrs587776727
ebirs587776727
HLIrs587776727
Exacrs587776727
Gnomadrs587776727
Varsomers587776727
LitVarrs587776727
Maprs587776727
PheGenIrs587776727
Biobankrs587776727
1000 genomesrs587776727
hgdprs587776727
ensemblrs587776727
geneviewrs587776727
scholarrs587776727
googlers587776727
pharmgkbrs587776727
gwascentralrs587776727
openSNPrs587776727
23andMers587776727
SNPshotrs587776727
SNPdbers587776727
MSV3drs587776727
GWAS Ctlgrs587776727
Max Magnitude0
ClinVar
Risk Rs587776727(G;G) rs587776727(-;-)
Alt Rs587776727(G;G) rs587776727(-;-)
Reference Rs587776727(C;C)
Significance Pathogenic
Disease Paroxysmal nocturnal hemoglobinuria 1
Variation info
Gene PIGA
CLNDBN Paroxysmal nocturnal hemoglobinuria 1
Reversed 1
HGVS NC_000023.10:g.15349622delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000010641.2,