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rs869025182

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025182(G;T)
Make rs869025182(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position133692368
GeneGPC3
is asnp
is mentioned by
dbSNPrs869025182
ebirs869025182
HLIrs869025182
Exacrs869025182
Varsomers869025182
Maprs869025182
PheGenIrs869025182
hapmaprs869025182
1000 genomesrs869025182
hgdprs869025182
ensemblrs869025182
gopubmedrs869025182
geneviewrs869025182
scholarrs869025182
googlers869025182
pharmgkbrs869025182
gwascentralrs869025182
openSNPrs869025182
23andMers869025182
23andMe allrs869025182
SNP Nexus

SNPshotrs869025182
SNPdbers869025182
MSV3drs869025182
GWAS Ctlgrs869025182
Max Magnitude0
ClinVar
Risk rs869025182(T;T)
Alt rs869025182(T;T)
Reference rs869025182(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.132826396C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012454.15,