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rs387906597

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906597(C;T)
Make rs387906597(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position53950667
GeneBMP4
is asnp
is mentioned by
dbSNPrs387906597
ebirs387906597
HLIrs387906597
Exacrs387906597
Varsomers387906597
Maprs387906597
PheGenIrs387906597
hapmaprs387906597
1000 genomesrs387906597
hgdprs387906597
ensemblrs387906597
gopubmedrs387906597
geneviewrs387906597
scholarrs387906597
googlers387906597
pharmgkbrs387906597
gwascentralrs387906597
openSNPrs387906597
23andMers387906597
23andMe allrs387906597
SNP Nexus

SNPshotrs387906597
SNPdbers387906597
MSV3drs387906597
GWAS Ctlgrs387906597
Max Magnitude0
ClinVar
Risk rs387906597(G,T;G,T)
Alt rs387906597(G,T;G,T)
Reference rs387906597(C;C)
Significance Pathogenic
Disease Orofacial cleft 11 Microphthalmia syndromic 6
Variation info
Gene BMP4
CLNDBN Orofacial cleft 11 Microphthalmia syndromic 6
Reversed 1
HGVS NC_000014.8:g.54417385G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022455.24, RCV000022456.28,