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rs387906992

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906992(C;T)
Make rs387906992(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position34055301
GeneBMPER
is asnp
is mentioned by
dbSNPrs387906992
dbSNP (old)rs387906992
ClinGenrs387906992
ebirs387906992
HLIrs387906992
Exacrs387906992
Gnomadrs387906992
Varsomers387906992
Maprs387906992
PheGenIrs387906992
Biobankrs387906992
1000 genomesrs387906992
hgdprs387906992
ensemblrs387906992
gopubmedrs387906992
geneviewrs387906992
scholarrs387906992
googlers387906992
pharmgkbrs387906992
gwascentralrs387906992
openSNPrs387906992
23andMers387906992
23andMe allrs387906992
SNP Nexus

SNPshotrs387906992
SNPdbers387906992
MSV3drs387906992
GWAS Ctlgrs387906992
Max Magnitude0
ClinVar
Risk rs387906992(T;T)
Alt rs387906992(T;T)
Reference Rs387906992(C;C)
Significance Pathogenic
Disease Diaphanospondylodysostosis
Variation info
Gene BMPER
CLNDBN Diaphanospondylodysostosis
Reversed 0
HGVS NC_000007.13:g.34094913C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023721.2,