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rs587777399

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
(CTTA;CTTA) 0 common in clinvar
Make rs587777399(-;-)
Make rs587777399(-;AAG)
ReferenceGRCh38 38.1/142
ChromosomeX
Position15324821
GenePIGA
is asnp
is mentioned by
dbSNPrs587777399
ebirs587777399
HLIrs587777399
Exacrs587777399
Varsomers587777399
Maprs587777399
PheGenIrs587777399
hapmaprs587777399
1000 genomesrs587777399
hgdprs587777399
ensemblrs587777399
gopubmedrs587777399
geneviewrs587777399
scholarrs587777399
googlers587777399
pharmgkbrs587777399
gwascentralrs587777399
openSNPrs587777399
23andMers587777399
23andMe allrs587777399
SNP Nexus

SNPshotrs587777399
SNPdbers587777399
MSV3drs587777399
GWAS Ctlgrs587777399
Max Magnitude0
ClinVar
Risk rs587777399(AAGA,A;AAGA,A)
Alt rs587777399(AAGA,A;AAGA,A)
Reference rs587777399(CTTA;CTTA)
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.15342943_15342945delAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000119287.2,