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rs713993046

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs713993046(G;T)
Make rs713993046(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position76018717
GeneIMPG1
is asnp
is mentioned by
dbSNPrs713993046
ebirs713993046
HLIrs713993046
Exacrs713993046
Varsomers713993046
Maprs713993046
PheGenIrs713993046
hapmaprs713993046
1000 genomesrs713993046
hgdprs713993046
ensemblrs713993046
gopubmedrs713993046
geneviewrs713993046
scholarrs713993046
googlers713993046
pharmgkbrs713993046
gwascentralrs713993046
openSNPrs713993046
23andMers713993046
23andMe allrs713993046
SNP Nexus

SNPshotrs713993046
SNPdbers713993046
MSV3drs713993046
GWAS Ctlgrs713993046
Max Magnitude0
ClinVar
Risk rs713993046(T;T)
Alt rs713993046(T;T)
Reference rs713993046(G;G)
Significance Pathogenic
Disease Macular dystrophy
Variation info
Gene IMPG1
CLNDBN Macular dystrophy, vitelliform, 4
Reversed 1
HGVS NC_000006.11:g.76728434C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149548.4,