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rs869025183

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025183(A;A)
Make rs869025183(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position133953049
GeneGPC3
is asnp
is mentioned by
dbSNPrs869025183
ebirs869025183
HLIrs869025183
Exacrs869025183
Varsomers869025183
Maprs869025183
PheGenIrs869025183
hapmaprs869025183
1000 genomesrs869025183
hgdprs869025183
ensemblrs869025183
gopubmedrs869025183
geneviewrs869025183
scholarrs869025183
googlers869025183
pharmgkbrs869025183
gwascentralrs869025183
openSNPrs869025183
23andMers869025183
23andMe allrs869025183
SNP Nexus

SNPshotrs869025183
SNPdbers869025183
MSV3drs869025183
GWAS Ctlgrs869025183
Max Magnitude0
ClinVar
Risk rs869025183(A;A)
Alt rs869025183(A;A)
Reference rs869025183(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.133087076C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012459.25,