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rs587777398

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777398(A;A)
Make rs587777398(A;C)
ReferenceGRCh38 38.1/142
ChromosomeX
Position15331701
GenePIGA
is asnp
is mentioned by
dbSNPrs587777398
ebirs587777398
HLIrs587777398
Exacrs587777398
Varsomers587777398
Maprs587777398
PheGenIrs587777398
hapmaprs587777398
1000 genomesrs587777398
hgdprs587777398
ensemblrs587777398
gopubmedrs587777398
geneviewrs587777398
scholarrs587777398
googlers587777398
pharmgkbrs587777398
gwascentralrs587777398
openSNPrs587777398
23andMers587777398
23andMe allrs587777398
SNP Nexus

SNPshotrs587777398
SNPdbers587777398
MSV3drs587777398
GWAS Ctlgrs587777398
Max Magnitude0
ClinVar
Risk rs587777398(A,T;A,T)
Alt rs587777398(A,T;A,T)
Reference rs587777398(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 0
HGVS NC_000023.10:g.15349823C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000119285.2,