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rs387906993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906993(C;T)
Make rs387906993(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position34078887
GeneBMPER
is asnp
is mentioned by
dbSNPrs387906993
ebirs387906993
HLIrs387906993
Exacrs387906993
Varsomers387906993
Maprs387906993
PheGenIrs387906993
hapmaprs387906993
1000 genomesrs387906993
hgdprs387906993
ensemblrs387906993
gopubmedrs387906993
geneviewrs387906993
scholarrs387906993
googlers387906993
pharmgkbrs387906993
gwascentralrs387906993
openSNPrs387906993
23andMers387906993
23andMe allrs387906993
SNP Nexus

SNPshotrs387906993
SNPdbers387906993
MSV3drs387906993
GWAS Ctlgrs387906993
Max Magnitude0
ClinVar
Risk rs387906993(T;T)
Alt rs387906993(T;T)
Reference Rs387906993(C;C)
Significance Pathogenic
Disease Diaphanospondylodysostosis
Variation info
Gene BMPER
CLNDBN Diaphanospondylodysostosis
Reversed 0
HGVS NC_000007.13:g.34118499C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023724.2,