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rs104894854

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894854(A;A)
Make rs104894854(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position133753628
GeneGPC3
is asnp
is mentioned by
dbSNPrs104894854
ebirs104894854
HLIrs104894854
Exacrs104894854
Varsomers104894854
Maprs104894854
PheGenIrs104894854
hapmaprs104894854
1000 genomesrs104894854
hgdprs104894854
ensemblrs104894854
gopubmedrs104894854
geneviewrs104894854
scholarrs104894854
googlers104894854
pharmgkbrs104894854
gwascentralrs104894854
openSNPrs104894854
23andMers104894854
23andMe allrs104894854
SNP Nexus

SNPshotrs104894854
SNPdbers104894854
MSV3drs104894854
GWAS Ctlgrs104894854
Max Magnitude0
OMIM300037
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894854(A;A)
Alt rs104894854(A;A)
Reference rs104894854(T;T)
Significance Pathogenic
Disease Simpson-Golabi-Behmel syndrome
Variation info
Gene GPC3
CLNDBN Simpson-Golabi-Behmel syndrome
Reversed 1
HGVS NC_000023.10:g.132887655A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012453.23,