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rs376711003

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs376711003(G;T)
Make rs376711003(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86743617
GeneCNGB3
is asnp
is mentioned by
dbSNPrs376711003
dbSNP (classic)rs376711003
ClinGenrs376711003
ebirs376711003
HLIrs376711003
Exacrs376711003
Gnomadrs376711003
Varsomers376711003
LitVarrs376711003
Maprs376711003
PheGenIrs376711003
Biobankrs376711003
1000 genomesrs376711003
hgdprs376711003
ensemblrs376711003
geneviewrs376711003
scholarrs376711003
googlers376711003
pharmgkbrs376711003
gwascentralrs376711003
openSNPrs376711003
23andMers376711003
SNPshotrs376711003
SNPdbers376711003
MSV3drs376711003
GWAS Ctlgrs376711003
Max Magnitude0
ClinVar
Risk rs376711003(A;A) rs376711003(T;T)
Alt rs376711003(A;A) rs376711003(T;T)
Reference Rs376711003(G;G)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 0
HGVS NC_000008.10:g.87755845G>T
CLNSRC
CLNACC RCV000411455.1,