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rs713993049

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs713993049(G;T)
Make rs713993049(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position101232784
GeneIMPG2
is asnp
is mentioned by
dbSNPrs713993049
ebirs713993049
HLIrs713993049
Exacrs713993049
Varsomers713993049
Maprs713993049
PheGenIrs713993049
hapmaprs713993049
1000 genomesrs713993049
hgdprs713993049
ensemblrs713993049
gopubmedrs713993049
geneviewrs713993049
scholarrs713993049
googlers713993049
pharmgkbrs713993049
gwascentralrs713993049
openSNPrs713993049
23andMers713993049
23andMe allrs713993049
SNP Nexus

SNPshotrs713993049
SNPdbers713993049
MSV3drs713993049
GWAS Ctlgrs713993049
Max Magnitude0
ClinVar
Risk rs713993049(T;T)
Alt rs713993049(T;T)
Reference rs713993049(G;G)
Significance Pathogenic
Disease Macular dystrophy
Variation info
Gene IMPG2
CLNDBN Macular dystrophy, vitelliform, 5
Reversed 1
HGVS NC_000003.11:g.100951628C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149552.3,