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rs387906794

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906794(A;A)
Make rs387906794(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position96145336
GeneGDF6
is asnp
is mentioned by
dbSNPrs387906794
ebirs387906794
HLIrs387906794
Exacrs387906794
Varsomers387906794
Maprs387906794
PheGenIrs387906794
hapmaprs387906794
1000 genomesrs387906794
hgdprs387906794
ensemblrs387906794
gopubmedrs387906794
geneviewrs387906794
scholarrs387906794
googlers387906794
pharmgkbrs387906794
gwascentralrs387906794
openSNPrs387906794
23andMers387906794
23andMe allrs387906794
SNP Nexus

SNPshotrs387906794
SNPdbers387906794
MSV3drs387906794
GWAS Ctlgrs387906794
Max Magnitude0
ClinVar
Risk rs387906794(A;A)
Alt rs387906794(A;A)
Reference rs387906794(G;G)
Significance Pathogenic
Disease Microphthalmia Leber congenital amaurosis 17
Variation info
Gene GDF6
CLNDBN Microphthalmia, isolated, with coloboma 6 Leber congenital amaurosis 17
Reversed 1
HGVS NC_000008.10:g.97157564C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023075.5, RCV000054524.2,