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rs1060499558

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499558(-;-)
Make rs1060499558(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position41965438
GeneGLI3
is asnp
is mentioned by
dbSNPrs1060499558
dbSNP (old)rs1060499558
ClinGenrs1060499558
ebirs1060499558
HLIrs1060499558
Exacrs1060499558
Gnomadrs1060499558
Varsomers1060499558
Maprs1060499558
PheGenIrs1060499558
Biobankrs1060499558
1000 genomesrs1060499558
hgdprs1060499558
ensemblrs1060499558
gopubmedrs1060499558
geneviewrs1060499558
scholarrs1060499558
googlers1060499558
pharmgkbrs1060499558
gwascentralrs1060499558
openSNPrs1060499558
23andMers1060499558
23andMe allrs1060499558
SNPshotrs1060499558
SNPdbers1060499558
MSV3drs1060499558
GWAS Ctlgrs1060499558
Max Magnitude0
ClinVar
Risk rs1060499558(-;-)
Alt rs1060499558(-;-)
Reference Rs1060499558(G;G)
Significance Pathogenic
Disease Postaxial polydactyly type A1
Variation info
Gene GLI3
CLNDBN Postaxial polydactyly type A1
Reversed 1
HGVS NC_000007.13:g.42005036delC
CLNSRC
CLNACC RCV000454366.1,