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rs201893545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs201893545(A;G)
Make rs201893545(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position101304277
GeneIMPG2
is asnp
is mentioned by
dbSNPrs201893545
dbSNP (classic)rs201893545
ClinGenrs201893545
ebirs201893545
HLIrs201893545
Exacrs201893545
Gnomadrs201893545
Varsomers201893545
LitVarrs201893545
Maprs201893545
PheGenIrs201893545
Biobankrs201893545
1000 genomesrs201893545
hgdprs201893545
ensemblrs201893545
geneviewrs201893545
scholarrs201893545
googlers201893545
pharmgkbrs201893545
gwascentralrs201893545
openSNPrs201893545
23andMers201893545
SNPshotrs201893545
SNPdbers201893545
MSV3drs201893545
GWAS Ctlgrs201893545
Max Magnitude0
ClinVar
Risk rs201893545(G;G)
Alt rs201893545(G;G)
Reference Rs201893545(A;A)
Significance Pathogenic
Disease Macular dystrophy
Variation info
Gene IMPG2
CLNDBN Macular dystrophy, vitelliform, 5
Reversed 0
HGVS NC_000003.11:g.101023121A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003728.3,