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rs121917853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917853(A;A)
Make rs121917853(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219057619
GeneIHH
is asnp
is mentioned by
dbSNPrs121917853
dbSNP (classic)rs121917853
ClinGenrs121917853
ebirs121917853
HLIrs121917853
Exacrs121917853
Gnomadrs121917853
Varsomers121917853
LitVarrs121917853
Maprs121917853
PheGenIrs121917853
Biobankrs121917853
1000 genomesrs121917853
hgdprs121917853
ensemblrs121917853
geneviewrs121917853
scholarrs121917853
googlers121917853
pharmgkbrs121917853
gwascentralrs121917853
openSNPrs121917853
23andMers121917853
SNPshotrs121917853
SNPdbers121917853
MSV3drs121917853
GWAS Ctlgrs121917853
Max Magnitude0
ClinVar
Risk rs121917853(A;A)
Alt rs121917853(A;A)
Reference Rs121917853(G;G)
Significance Pathogenic
Disease Brachydactyly type A1
Variation info
Gene IHH
CLNDBN Brachydactyly type A1
Reversed 1
HGVS NC_000002.11:g.219922341C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009417.2,