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rs121917857

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917857(C;C)
Make rs121917857(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position219057441
GeneIHH
is asnp
is mentioned by
dbSNPrs121917857
ebirs121917857
HLIrs121917857
Exacrs121917857
Varsomers121917857
Maprs121917857
PheGenIrs121917857
hapmaprs121917857
1000 genomesrs121917857
hgdprs121917857
ensemblrs121917857
gopubmedrs121917857
geneviewrs121917857
scholarrs121917857
googlers121917857
pharmgkbrs121917857
gwascentralrs121917857
openSNPrs121917857
23andMers121917857
23andMe allrs121917857
SNP Nexus

SNPshotrs121917857
SNPdbers121917857
MSV3drs121917857
GWAS Ctlgrs121917857
Max Magnitude0
ClinVar
Risk rs121917857(C;C)
Alt rs121917857(C;C)
Reference rs121917857(T;T)
Significance Pathogenic
Disease Acrocapitofemoral dysplasia
Variation info
Gene IHH
CLNDBN Acrocapitofemoral dysplasia
Reversed 1
HGVS NC_000002.11:g.219922163A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009421.3,