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rs61755783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61755783(C;T)
Make rs61755783(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position42721911
GenePRPH2
is asnp
is mentioned by
dbSNPrs61755783
dbSNP (classic)rs61755783
ClinGenrs61755783
ebirs61755783
HLIrs61755783
Exacrs61755783
Gnomadrs61755783
Varsomers61755783
LitVarrs61755783
Maprs61755783
PheGenIrs61755783
Biobankrs61755783
1000 genomesrs61755783
hgdprs61755783
ensemblrs61755783
geneviewrs61755783
scholarrs61755783
googlers61755783
pharmgkbrs61755783
gwascentralrs61755783
openSNPrs61755783
23andMers61755783
SNPshotrs61755783
SNPdbers61755783
MSV3drs61755783
GWAS Ctlgrs61755783
Max Magnitude0
OMIM179605
Desc
Variant0022
Relatedalso


ClinVar
Risk rs61755783(T;T)
Alt rs61755783(T;T)
Reference Rs61755783(C;C)
Significance Pathogenic
Disease Choroidal dystrophy not provided
Variation info
Gene PRPH2
CLNDBN Choroidal dystrophy, central areolar 2 not provided
Reversed 1
HGVS NC_000006.11:g.42689649G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000014071.27, RCV000084971.3,