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rs587777396

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777396(A;A)
Make rs587777396(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position15331576
GenePIGA
is asnp
is mentioned by
dbSNPrs587777396
ebirs587777396
HLIrs587777396
Exacrs587777396
Varsomers587777396
Maprs587777396
PheGenIrs587777396
hapmaprs587777396
1000 genomesrs587777396
hgdprs587777396
ensemblrs587777396
gopubmedrs587777396
geneviewrs587777396
scholarrs587777396
googlers587777396
pharmgkbrs587777396
gwascentralrs587777396
openSNPrs587777396
23andMers587777396
23andMe allrs587777396
SNP Nexus

SNPshotrs587777396
SNPdbers587777396
MSV3drs587777396
GWAS Ctlgrs587777396
Max Magnitude0
ClinVar
Risk rs587777396(A,G;A,G)
Alt rs587777396(A,G;A,G)
Reference rs587777396(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.15349698G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000119283.2,