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rs387906945

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906945(C;C)
Make rs387906945(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position7690059
GeneGDF3
is asnp
is mentioned by
dbSNPrs387906945
ebirs387906945
HLIrs387906945
Exacrs387906945
Varsomers387906945
Maprs387906945
PheGenIrs387906945
hapmaprs387906945
1000 genomesrs387906945
hgdprs387906945
ensemblrs387906945
gopubmedrs387906945
geneviewrs387906945
scholarrs387906945
googlers387906945
pharmgkbrs387906945
gwascentralrs387906945
openSNPrs387906945
23andMers387906945
23andMe allrs387906945
SNP Nexus

SNPshotrs387906945
SNPdbers387906945
MSV3drs387906945
GWAS Ctlgrs387906945
Max Magnitude0
ClinVar
Risk rs387906945(C;C)
Alt rs387906945(C;C)
Reference rs387906945(T;T)
Significance Pathogenic
Disease Microphthalmia Congenital ocular coloboma
Variation info
Gene GDF3
CLNDBN Microphthalmia, isolated 7 Congenital ocular coloboma
Reversed 1
HGVS NC_000012.11:g.7842655A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023557.2, RCV000033195.2,