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rs387906726

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906726(C;T)
Make rs387906726(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position15321727
GenePIGA
is asnp
is mentioned by
dbSNPrs387906726
ebirs387906726
HLIrs387906726
Exacrs387906726
Varsomers387906726
Maprs387906726
PheGenIrs387906726
hapmaprs387906726
1000 genomesrs387906726
hgdprs387906726
ensemblrs387906726
gopubmedrs387906726
geneviewrs387906726
scholarrs387906726
googlers387906726
pharmgkbrs387906726
gwascentralrs387906726
openSNPrs387906726
23andMers387906726
23andMe allrs387906726
SNP Nexus

SNPshotrs387906726
SNPdbers387906726
MSV3drs387906726
GWAS Ctlgrs387906726
Max Magnitude0
ClinVar
Risk rs387906726(T;T)
Alt rs387906726(T;T)
Reference rs387906726(C;C)
Significance Pathogenic
Disease Multiple congenital anomalies-hypotonia-seizures syndrome 2
Variation info
Gene PIGA
CLNDBN Multiple congenital anomalies-hypotonia-seizures syndrome 2
Reversed 1
HGVS NC_000023.10:g.15339849G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022881.5,