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rs267606850

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606850(A;A)
Make rs267606850(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position133536201
GeneGPC3
is asnp
is mentioned by
dbSNPrs267606850
dbSNP (classic)rs267606850
ClinGenrs267606850
ebirs267606850
HLIrs267606850
Exacrs267606850
Gnomadrs267606850
Varsomers267606850
LitVarrs267606850
Maprs267606850
PheGenIrs267606850
Biobankrs267606850
1000 genomesrs267606850
hgdprs267606850
ensemblrs267606850
geneviewrs267606850
scholarrs267606850
googlers267606850
pharmgkbrs267606850
gwascentralrs267606850
openSNPrs267606850
23andMers267606850
SNPshotrs267606850
SNPdbers267606850
MSV3drs267606850
GWAS Ctlgrs267606850
Max Magnitude0
ClinVar
Risk rs267606850(A;A)
Alt rs267606850(A;A)
Reference Rs267606850(G;G)
Significance Pathogenic
Disease Simpson-Golabi-Behmel syndrome
Variation info
Gene GPC3
CLNDBN Simpson-Golabi-Behmel syndrome
Reversed 1
HGVS NC_000023.10:g.132670229C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012461.22,