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rs587777397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587777397(-;A)
Make rs587777397(A;A)
ReferenceGRCh38 38.1/142
ChromosomeX
Position15331855
GenePIGA
is asnp
is mentioned by
dbSNPrs587777397
dbSNP (classic)rs587777397
ClinGenrs587777397
ebirs587777397
HLIrs587777397
Exacrs587777397
Gnomadrs587777397
Varsomers587777397
LitVarrs587777397
Maprs587777397
PheGenIrs587777397
Biobankrs587777397
1000 genomesrs587777397
hgdprs587777397
ensemblrs587777397
geneviewrs587777397
scholarrs587777397
googlers587777397
pharmgkbrs587777397
gwascentralrs587777397
openSNPrs587777397
23andMers587777397
SNPshotrs587777397
SNPdbers587777397
MSV3drs587777397
GWAS Ctlgrs587777397
Max Magnitude0
ClinVar
Risk rs587777397(A;A)
Alt rs587777397(A;A)
Reference Rs587777397(-;-)
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.15349977dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000119284.2,