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rs201119959

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201119959(C;C)
Make rs201119959(C;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position15331315
GenePIGA
is asnp
is mentioned by
dbSNPrs201119959
ebirs201119959
HLIrs201119959
Exacrs201119959
Varsomers201119959
Maprs201119959
PheGenIrs201119959
hapmaprs201119959
1000 genomesrs201119959
hgdprs201119959
ensemblrs201119959
gopubmedrs201119959
geneviewrs201119959
scholarrs201119959
googlers201119959
pharmgkbrs201119959
gwascentralrs201119959
openSNPrs201119959
23andMers201119959
23andMe allrs201119959
SNP Nexus

SNPshotrs201119959
SNPdbers201119959
MSV3drs201119959
GWAS Ctlgrs201119959
Max Magnitude0
ClinVar
Risk rs201119959(A,C;A,C)
Alt rs201119959(A,C;A,C)
Reference rs201119959(T;T)
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.15349437T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000119286.2,