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rs713993045

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs713993045(G;G)
Make rs713993045(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position76018812
GeneIMPG1
is asnp
is mentioned by
dbSNPrs713993045
ebirs713993045
HLIrs713993045
Exacrs713993045
Varsomers713993045
Maprs713993045
PheGenIrs713993045
hapmaprs713993045
1000 genomesrs713993045
hgdprs713993045
ensemblrs713993045
gopubmedrs713993045
geneviewrs713993045
scholarrs713993045
googlers713993045
pharmgkbrs713993045
gwascentralrs713993045
openSNPrs713993045
23andMers713993045
23andMe allrs713993045
SNP Nexus

SNPshotrs713993045
SNPdbers713993045
MSV3drs713993045
GWAS Ctlgrs713993045
Max Magnitude0
ClinVar
Risk rs713993045(G;G)
Alt rs713993045(G;G)
Reference rs713993045(T;T)
Significance Pathogenic
Disease Macular dystrophy
Variation info
Gene IMPG1
CLNDBN Macular dystrophy, vitelliform, 4
Reversed 1
HGVS NC_000006.11:g.76728529A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000149547.4,