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rs1060499666

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499666(A;A)
Make rs1060499666(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position15324670
GenePIGA
is asnp
is mentioned by
dbSNPrs1060499666
dbSNP (old)rs1060499666
ClinGenrs1060499666
ebirs1060499666
HLIrs1060499666
Exacrs1060499666
Gnomadrs1060499666
Varsomers1060499666
LitVarrs1060499666
Maprs1060499666
PheGenIrs1060499666
Biobankrs1060499666
1000 genomesrs1060499666
hgdprs1060499666
ensemblrs1060499666
gopubmedrs1060499666
geneviewrs1060499666
scholarrs1060499666
googlers1060499666
pharmgkbrs1060499666
gwascentralrs1060499666
openSNPrs1060499666
23andMers1060499666
23andMe allrs1060499666
SNPshotrs1060499666
SNPdbers1060499666
MSV3drs1060499666
GWAS Ctlgrs1060499666
Max Magnitude0
ClinVar
Risk rs1060499666(A;A)
Alt rs1060499666(A;A)
Reference Rs1060499666(G;G)
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.15342792C>T
CLNSRC
CLNACC RCV000449490.1,