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rs121917855

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917855(A;A)
Make rs121917855(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219060170
GeneIHH, MIR3131
is asnp
is mentioned by
dbSNPrs121917855
dbSNP (classic)rs121917855
ClinGenrs121917855
ebirs121917855
HLIrs121917855
Exacrs121917855
Gnomadrs121917855
Varsomers121917855
LitVarrs121917855
Maprs121917855
PheGenIrs121917855
Biobankrs121917855
1000 genomesrs121917855
hgdprs121917855
ensemblrs121917855
geneviewrs121917855
scholarrs121917855
googlers121917855
pharmgkbrs121917855
gwascentralrs121917855
openSNPrs121917855
23andMers121917855
SNPshotrs121917855
SNPdbers121917855
MSV3drs121917855
GWAS Ctlgrs121917855
Merged fromRs28936377
Max Magnitude0
ClinVar
Risk rs121917855(A;A)
Alt rs121917855(A;A)
Reference Rs121917855(G;G)
Significance Pathogenic
Disease Brachydactyly type A1
Variation info
Gene IHH MIR3131
CLNDBN Brachydactyly type A1
Reversed 1
HGVS NC_000002.11:g.219924892C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009419.5,