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rs863223287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATGGACCT;ATGGACCT) 0 common in clinvar
Make rs863223287(-;-)
Make rs863223287(-;GGACCTAT)
Make rs863223287(GGACCTAT;GGACCTAT)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position95123821
GeneBMPR1B
is asnp
is mentioned by
dbSNPrs863223287
ClinGenrs863223287
ebirs863223287
HLIrs863223287
Exacrs863223287
Varsomers863223287
Maprs863223287
PheGenIrs863223287
hapmaprs863223287
1000 genomesrs863223287
hgdprs863223287
ensemblrs863223287
gopubmedrs863223287
geneviewrs863223287
scholarrs863223287
googlers863223287
pharmgkbrs863223287
gwascentralrs863223287
openSNPrs863223287
23andMers863223287
23andMe allrs863223287
SNP Nexus

SNPshotrs863223287
SNPdbers863223287
MSV3drs863223287
GWAS Ctlgrs863223287
Max Magnitude0
ClinVar
Risk rs863223287(-;-)
Alt rs863223287(-;-)
Reference Rs863223287(ATGGACCT;ATGGACCT)
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.96044972_96044979delGGACCTAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006935.3,