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rs199422233

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422233(C;T)
Make rs199422233(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position15331768
GenePIGA
is asnp
is mentioned by
dbSNPrs199422233
dbSNP (classic)rs199422233
ClinGenrs199422233
ebirs199422233
HLIrs199422233
Exacrs199422233
Gnomadrs199422233
Varsomers199422233
LitVarrs199422233
Maprs199422233
PheGenIrs199422233
Biobankrs199422233
1000 genomesrs199422233
hgdprs199422233
ensemblrs199422233
geneviewrs199422233
scholarrs199422233
googlers199422233
pharmgkbrs199422233
gwascentralrs199422233
openSNPrs199422233
23andMers199422233
SNPshotrs199422233
SNPdbers199422233
MSV3drs199422233
GWAS Ctlgrs199422233
Max Magnitude0
ClinVar
Risk rs199422233(T;T)
Alt rs199422233(T;T)
Reference Rs199422233(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.15349890G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010639.4,