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rs863225041

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225041(C;C)
Make rs863225041(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position95114733
GeneBMPR1B
is asnp
is mentioned by
dbSNPrs863225041
dbSNP (classic)rs863225041
ClinGenrs863225041
ebirs863225041
HLIrs863225041
Exacrs863225041
Gnomadrs863225041
Varsomers863225041
LitVarrs863225041
Maprs863225041
PheGenIrs863225041
Biobankrs863225041
1000 genomesrs863225041
hgdprs863225041
ensemblrs863225041
geneviewrs863225041
scholarrs863225041
googlers863225041
pharmgkbrs863225041
gwascentralrs863225041
openSNPrs863225041
23andMers863225041
SNPshotrs863225041
SNPdbers863225041
MSV3drs863225041
GWAS Ctlgrs863225041
Max Magnitude0
ClinVar
Risk rs863225041(C;C)
Alt rs863225041(C;C)
Reference Rs863225041(T;T)
Significance Pathogenic
Disease Chondrodysplasia acromesomelic with genital anomalies
Variation info
Gene BMPR1B
CLNDBN Chondrodysplasia acromesomelic with genital anomalies
Reversed 0
HGVS NC_000004.11:g.96035884T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000201167.2,