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rs387906946

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906946(C;T)
Make rs387906946(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position7690153
GeneGDF3
is asnp
is mentioned by
dbSNPrs387906946
ebirs387906946
HLIrs387906946
Exacrs387906946
Varsomers387906946
Maprs387906946
PheGenIrs387906946
hapmaprs387906946
1000 genomesrs387906946
hgdprs387906946
ensemblrs387906946
gopubmedrs387906946
geneviewrs387906946
scholarrs387906946
googlers387906946
pharmgkbrs387906946
gwascentralrs387906946
openSNPrs387906946
23andMers387906946
23andMe allrs387906946
SNP Nexus

SNPshotrs387906946
SNPdbers387906946
MSV3drs387906946
GWAS Ctlgrs387906946
Max Magnitude0
ClinVar
Risk rs387906946(T;T)
Alt rs387906946(T;T)
Reference rs387906946(C;C)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene GDF3
CLNDBN Microphthalmia, isolated, with coloboma 6
Reversed 1
HGVS NC_000012.11:g.7842749G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023559.2,