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rs121917854

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917854(A;A)
Make rs121917854(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position219060168
GeneIHH
is asnp
is mentioned by
dbSNPrs121917854
ebirs121917854
HLIrs121917854
Exacrs121917854
Varsomers121917854
Maprs121917854
PheGenIrs121917854
hapmaprs121917854
1000 genomesrs121917854
hgdprs121917854
ensemblrs121917854
gopubmedrs121917854
geneviewrs121917854
scholarrs121917854
googlers121917854
pharmgkbrs121917854
gwascentralrs121917854
openSNPrs121917854
23andMers121917854
23andMe allrs121917854
SNP Nexus

SNPshotrs121917854
SNPdbers121917854
MSV3drs121917854
GWAS Ctlgrs121917854
Max Magnitude0
ClinVar
Risk rs121917854(A;A)
Alt rs121917854(A;A)
Reference rs121917854(C;C)
Significance Pathogenic
Disease Brachydactyly type A1
Variation info
Gene IHH MIR3131
CLNDBN Brachydactyly type A1
Reversed 1
HGVS NC_000002.11:g.219924890G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009418.3,