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rs713993047

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs713993047(C;C)
Make rs713993047(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position76034628
GeneIMPG1
is asnp
is mentioned by
dbSNPrs713993047
ebirs713993047
HLIrs713993047
Exacrs713993047
Varsomers713993047
Maprs713993047
PheGenIrs713993047
hapmaprs713993047
1000 genomesrs713993047
hgdprs713993047
ensemblrs713993047
gopubmedrs713993047
geneviewrs713993047
scholarrs713993047
googlers713993047
pharmgkbrs713993047
gwascentralrs713993047
openSNPrs713993047
23andMers713993047
23andMe allrs713993047
SNP Nexus

SNPshotrs713993047
SNPdbers713993047
MSV3drs713993047
GWAS Ctlgrs713993047
Max Magnitude0
ClinVar
Risk rs713993047(C;C)
Alt rs713993047(C;C)
Reference rs713993047(T;T)
Significance Pathogenic
Disease Macular dystrophy
Variation info
Gene IMPG1
CLNDBN Macular dystrophy, vitelliform, 4
Reversed 1
HGVS NC_000006.11:g.76744345A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000149550.5,