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rs121917852

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917852(A;A)
Make rs121917852(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219060185
GeneIHH, MIR3131
is asnp
is mentioned by
dbSNPrs121917852
dbSNP (classic)rs121917852
ClinGenrs121917852
ebirs121917852
HLIrs121917852
Exacrs121917852
Gnomadrs121917852
Varsomers121917852
LitVarrs121917852
Maprs121917852
PheGenIrs121917852
Biobankrs121917852
1000 genomesrs121917852
hgdprs121917852
ensemblrs121917852
geneviewrs121917852
scholarrs121917852
googlers121917852
pharmgkbrs121917852
gwascentralrs121917852
openSNPrs121917852
23andMers121917852
SNPshotrs121917852
SNPdbers121917852
MSV3drs121917852
GWAS Ctlgrs121917852
Max Magnitude0
ClinVar
Risk rs121917852(A;A)
Alt rs121917852(A;A)
Reference Rs121917852(G;G)
Significance Pathogenic
Disease Brachydactyly type A1
Variation info
Gene IHH MIR3131
CLNDBN Brachydactyly type A1
Reversed 1
HGVS NC_000002.11:g.219924907C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009416.3,