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rs121912767

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912767(C;G)
Make rs121912767(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position53951951
GeneBMP4
is asnp
is mentioned by
dbSNPrs121912767
dbSNP (classic)rs121912767
ClinGenrs121912767
ebirs121912767
HLIrs121912767
Exacrs121912767
Gnomadrs121912767
Varsomers121912767
LitVarrs121912767
Maprs121912767
PheGenIrs121912767
Biobankrs121912767
1000 genomesrs121912767
hgdprs121912767
ensemblrs121912767
geneviewrs121912767
scholarrs121912767
googlers121912767
pharmgkbrs121912767
gwascentralrs121912767
openSNPrs121912767
23andMers121912767
SNPshotrs121912767
SNPdbers121912767
MSV3drs121912767
GWAS Ctlgrs121912767
Max Magnitude0
OMIM112262
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912767(G;G)
Alt rs121912767(G;G)
Reference Rs121912767(C;C)
Significance Pathogenic
Disease Orofacial cleft 11
Variation info
Gene BMP4
CLNDBN Orofacial cleft 11
Reversed 1
HGVS NC_000014.8:g.54418669G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019277.28,