Have questions? Visit https://www.reddit.com/r/SNPedia

rs387906994

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906994(A;A)
Make rs387906994(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position34085985
GeneBMPER
is asnp
is mentioned by
dbSNPrs387906994
ebirs387906994
HLIrs387906994
Exacrs387906994
Varsomers387906994
Maprs387906994
PheGenIrs387906994
hapmaprs387906994
1000 genomesrs387906994
hgdprs387906994
ensemblrs387906994
gopubmedrs387906994
geneviewrs387906994
scholarrs387906994
googlers387906994
pharmgkbrs387906994
gwascentralrs387906994
openSNPrs387906994
23andMers387906994
23andMe allrs387906994
SNP Nexus

SNPshotrs387906994
SNPdbers387906994
MSV3drs387906994
GWAS Ctlgrs387906994
Max Magnitude0
ClinVar
Risk rs387906994(A;A)
Alt rs387906994(A;A)
Reference rs387906994(T;T)
Significance Pathogenic
Disease Diaphanospondylodysostosis
Variation info
Gene BMPER
CLNDBN Diaphanospondylodysostosis
Reversed 0
HGVS NC_000007.13:g.34125597T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023725.3,