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rs121912765

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912765(A;G)
Make rs121912765(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position53951945
GeneBMP4
is asnp
is mentioned by
dbSNPrs121912765
ebirs121912765
HLIrs121912765
Exacrs121912765
Varsomers121912765
Maprs121912765
PheGenIrs121912765
hapmaprs121912765
1000 genomesrs121912765
hgdprs121912765
ensemblrs121912765
gopubmedrs121912765
geneviewrs121912765
scholarrs121912765
googlers121912765
pharmgkbrs121912765
gwascentralrs121912765
openSNPrs121912765
23andMers121912765
23andMe allrs121912765
SNP Nexus

SNPshotrs121912765
SNPdbers121912765
MSV3drs121912765
GWAS Ctlgrs121912765
Max Magnitude0
OMIM112262
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912765(G;G)
Alt rs121912765(G;G)
Reference rs121912765(A;A)
Significance Pathogenic
Disease Microphthalmia syndromic 6
Variation info
Gene BMP4
CLNDBN Microphthalmia syndromic 6
Reversed 1
HGVS NC_000014.8:g.54418663T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019275.28,