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rs121434417

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434417(A;A)
Make rs121434417(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position95129875
GeneBMPR1B
is asnp
is mentioned by
dbSNPrs121434417
dbSNP (classic)rs121434417
ClinGenrs121434417
ebirs121434417
HLIrs121434417
Exacrs121434417
Gnomadrs121434417
Varsomers121434417
LitVarrs121434417
Maprs121434417
PheGenIrs121434417
Biobankrs121434417
1000 genomesrs121434417
hgdprs121434417
ensemblrs121434417
geneviewrs121434417
scholarrs121434417
googlers121434417
pharmgkbrs121434417
gwascentralrs121434417
openSNPrs121434417
23andMers121434417
SNPshotrs121434417
SNPdbers121434417
MSV3drs121434417
GWAS Ctlgrs121434417
Merged fromRs28939703
Max Magnitude0
OMIM603248
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434417(A;A)
Alt rs121434417(A;A)
Reference Rs121434417(T;T)
Significance Pathogenic
Disease Brachydactyly type A2
Variation info
Gene BMPR1B
CLNDBN Brachydactyly type A2
Reversed 0
HGVS NC_000004.11:g.96051026T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006933.3,