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rs1060499625

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499625(C;G)
Make rs1060499625(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position15331536
GenePIGA
is asnp
is mentioned by
dbSNPrs1060499625
dbSNP (old)rs1060499625
ClinGenrs1060499625
ebirs1060499625
HLIrs1060499625
Exacrs1060499625
Gnomadrs1060499625
Varsomers1060499625
Maprs1060499625
PheGenIrs1060499625
Biobankrs1060499625
1000 genomesrs1060499625
hgdprs1060499625
ensemblrs1060499625
gopubmedrs1060499625
geneviewrs1060499625
scholarrs1060499625
googlers1060499625
pharmgkbrs1060499625
gwascentralrs1060499625
openSNPrs1060499625
23andMers1060499625
23andMe allrs1060499625
SNPshotrs1060499625
SNPdbers1060499625
MSV3drs1060499625
GWAS Ctlgrs1060499625
Max Magnitude0
ClinVar
Risk rs1060499625(G;G)
Alt rs1060499625(G;G)
Reference Rs1060499625(C;C)
Significance Probable-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.15349658G>C
CLNSRC
CLNACC RCV000445622.1,