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rs869025614

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869025614(A;C)
Make rs869025614(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position95131411
GeneBMPR1B
is asnp
is mentioned by
dbSNPrs869025614
dbSNP (classic)rs869025614
ClinGenrs869025614
ebirs869025614
HLIrs869025614
Exacrs869025614
Gnomadrs869025614
Varsomers869025614
LitVarrs869025614
Maprs869025614
PheGenIrs869025614
Biobankrs869025614
1000 genomesrs869025614
hgdprs869025614
ensemblrs869025614
geneviewrs869025614
scholarrs869025614
googlers869025614
pharmgkbrs869025614
gwascentralrs869025614
openSNPrs869025614
23andMers869025614
SNPshotrs869025614
SNPdbers869025614
MSV3drs869025614
GWAS Ctlgrs869025614
Max Magnitude0
ClinVar
Risk rs869025614(C;C)
Alt rs869025614(C;C)
Reference Rs869025614(A;A)
Significance Pathogenic
Disease Brachydactyly
Variation info
Gene BMPR1B
CLNDBN Brachydactyly, type a1, d
Reversed 0
HGVS NC_000004.11:g.96052562A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000208782.1,