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rs121917709

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917709(C;T)
Make rs121917709(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position41972513
GeneGLI3
is asnp
is mentioned by
dbSNPrs121917709
dbSNP (classic)rs121917709
ClinGenrs121917709
ebirs121917709
HLIrs121917709
Exacrs121917709
Gnomadrs121917709
Varsomers121917709
LitVarrs121917709
Maprs121917709
PheGenIrs121917709
Biobankrs121917709
1000 genomesrs121917709
hgdprs121917709
ensemblrs121917709
geneviewrs121917709
scholarrs121917709
googlers121917709
pharmgkbrs121917709
gwascentralrs121917709
openSNPrs121917709
23andMers121917709
SNPshotrs121917709
SNPdbers121917709
MSV3drs121917709
GWAS Ctlgrs121917709
Max Magnitude0
OMIM165240
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121917709(T;T)
Alt rs121917709(T;T)
Reference Rs121917709(C;C)
Significance Pathogenic
Disease Postaxial polydactyly
Variation info
Gene GLI3
CLNDBN Postaxial polydactyly, type a1/b
Reversed 1
HGVS NC_000007.13:g.42012112G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014831.21,