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rs199422232

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422232(A;A)
Make rs199422232(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position15331637
GenePIGA
is asnp
is mentioned by
dbSNPrs199422232
dbSNP (classic)rs199422232
ClinGenrs199422232
ebirs199422232
HLIrs199422232
Exacrs199422232
Gnomadrs199422232
Varsomers199422232
LitVarrs199422232
Maprs199422232
PheGenIrs199422232
Biobankrs199422232
1000 genomesrs199422232
hgdprs199422232
ensemblrs199422232
geneviewrs199422232
scholarrs199422232
googlers199422232
pharmgkbrs199422232
gwascentralrs199422232
openSNPrs199422232
23andMers199422232
SNPshotrs199422232
SNPdbers199422232
MSV3drs199422232
GWAS Ctlgrs199422232
Max Magnitude0
ClinVar
Risk rs199422232(A;A)
Alt rs199422232(A;A)
Reference Rs199422232(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.15349759G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010636.2,