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rs122453121

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122453121(C;T)
Make rs122453121(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position133699902
GeneGPC3
is asnp
is mentioned by
dbSNPrs122453121
ebirs122453121
HLIrs122453121
Exacrs122453121
Varsomers122453121
Maprs122453121
PheGenIrs122453121
hapmaprs122453121
1000 genomesrs122453121
hgdprs122453121
ensemblrs122453121
gopubmedrs122453121
geneviewrs122453121
scholarrs122453121
googlers122453121
pharmgkbrs122453121
gwascentralrs122453121
openSNPrs122453121
23andMers122453121
23andMe allrs122453121
SNP Nexus

SNPshotrs122453121
SNPdbers122453121
MSV3drs122453121
GWAS Ctlgrs122453121
Max Magnitude0
OMIM300037
Desc
Variant0010
Relatedalso
ClinVar
Risk rs122453121(T;T)
Alt rs122453121(T;T)
Reference rs122453121(C;C)
Significance Pathogenic
Disease Simpson-Golabi-Behmel syndrome
Variation info
Gene GPC3
CLNDBN Simpson-Golabi-Behmel syndrome
Reversed 1
HGVS NC_000023.10:g.132833930G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012460.14,