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rs1057518698

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518698(-;-)
Make rs1057518698(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position41967775
GeneGLI3
is asnp
is mentioned by
dbSNPrs1057518698
dbSNP (classic)rs1057518698
ClinGenrs1057518698
ebirs1057518698
HLIrs1057518698
Exacrs1057518698
Gnomadrs1057518698
Varsomers1057518698
LitVarrs1057518698
Maprs1057518698
PheGenIrs1057518698
Biobankrs1057518698
1000 genomesrs1057518698
hgdprs1057518698
ensemblrs1057518698
geneviewrs1057518698
scholarrs1057518698
googlers1057518698
pharmgkbrs1057518698
gwascentralrs1057518698
openSNPrs1057518698
23andMers1057518698
SNPshotrs1057518698
SNPdbers1057518698
MSV3drs1057518698
GWAS Ctlgrs1057518698
Max Magnitude0
ClinVar
Risk rs1057518698(-;-)
Alt rs1057518698(-;-)
Reference Rs1057518698(A;A)
Significance Pathogenic
Disease Postaxial polydactyly type A1
Variation info
Gene GLI3
CLNDBN Postaxial polydactyly type A1
Reversed 1
HGVS NC_000007.13:g.42007373delT
CLNSRC
CLNACC RCV000415028.1,