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rs121434419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434419(A;A)
Make rs121434419(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position95154621
GeneBMPR1B
is asnp
is mentioned by
dbSNPrs121434419
dbSNP (classic)rs121434419
ClinGenrs121434419
ebirs121434419
HLIrs121434419
Exacrs121434419
Gnomadrs121434419
Varsomers121434419
LitVarrs121434419
Maprs121434419
PheGenIrs121434419
Biobankrs121434419
1000 genomesrs121434419
hgdprs121434419
ensemblrs121434419
geneviewrs121434419
scholarrs121434419
googlers121434419
pharmgkbrs121434419
gwascentralrs121434419
openSNPrs121434419
23andMers121434419
SNPshotrs121434419
SNPdbers121434419
MSV3drs121434419
GWAS Ctlgrs121434419
Max Magnitude0
OMIM603248
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434419(A;A)
Alt rs121434419(A;A)
Reference Rs121434419(G;G)
Significance Pathogenic
Disease Brachydactyly type A2
Variation info
Gene BMPR1B
CLNDBN Brachydactyly type A2
Reversed 0
HGVS NC_000004.11:g.96075772G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006936.4,