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rs121434418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434418(C;T)
Make rs121434418(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position95154620
GeneBMPR1B
is asnp
is mentioned by
dbSNPrs121434418
ebirs121434418
HLIrs121434418
Exacrs121434418
Varsomers121434418
Maprs121434418
PheGenIrs121434418
hapmaprs121434418
1000 genomesrs121434418
hgdprs121434418
ensemblrs121434418
gopubmedrs121434418
geneviewrs121434418
scholarrs121434418
googlers121434418
pharmgkbrs121434418
gwascentralrs121434418
openSNPrs121434418
23andMers121434418
23andMe allrs121434418
SNP Nexus

SNPshotrs121434418
SNPdbers121434418
MSV3drs121434418
GWAS Ctlgrs121434418
Merged fromRs28939704
Max Magnitude0
OMIM603248
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434418(T;T)
Alt rs121434418(T;T)
Reference rs121434418(C;C)
Significance Pathogenic
Disease Brachydactyly type A2
Variation info
Gene BMPR1B
CLNDBN Brachydactyly type A2
Reversed 0
HGVS NC_000004.11:g.96075771C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006934.3,