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rs587777400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777400(A;A)
Make rs587777400(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position15331653
GenePIGA
is asnp
is mentioned by
dbSNPrs587777400
ebirs587777400
HLIrs587777400
Exacrs587777400
Varsomers587777400
Maprs587777400
PheGenIrs587777400
hapmaprs587777400
1000 genomesrs587777400
hgdprs587777400
ensemblrs587777400
gopubmedrs587777400
geneviewrs587777400
scholarrs587777400
googlers587777400
pharmgkbrs587777400
gwascentralrs587777400
openSNPrs587777400
23andMers587777400
23andMe allrs587777400
SNP Nexus

SNPshotrs587777400
SNPdbers587777400
MSV3drs587777400
GWAS Ctlgrs587777400
Max Magnitude0
ClinVar
Risk rs587777400(A,G;A,G)
Alt rs587777400(A,G;A,G)
Reference rs587777400(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.15349775G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000119288.2,