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rs397514725

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514725(C;C)
Make rs397514725(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position96160524
GeneGDF6
is asnp
is mentioned by
dbSNPrs397514725
ebirs397514725
HLIrs397514725
Exacrs397514725
Varsomers397514725
Maprs397514725
PheGenIrs397514725
hapmaprs397514725
1000 genomesrs397514725
hgdprs397514725
ensemblrs397514725
gopubmedrs397514725
geneviewrs397514725
scholarrs397514725
googlers397514725
pharmgkbrs397514725
gwascentralrs397514725
openSNPrs397514725
23andMers397514725
23andMe allrs397514725
SNP Nexus

SNPshotrs397514725
SNPdbers397514725
MSV3drs397514725
GWAS Ctlgrs397514725
Max Magnitude0
ClinVar
Risk rs397514725(A,C;A,C)
Alt rs397514725(A,C;A,C)
Reference rs397514725(G;G)
Significance Pathogenic
Disease Leber congenital amaurosis 17
Variation info
Gene GDF6
CLNDBN Leber congenital amaurosis 17
Reversed 1
HGVS NC_000008.10:g.97172752C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054426.3,