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rs373862340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs373862340(A;A)
Make rs373862340(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position86644671
GeneCNGB3
is asnp
is mentioned by
dbSNPrs373862340
dbSNP (classic)rs373862340
ClinGenrs373862340
ebirs373862340
HLIrs373862340
Exacrs373862340
Gnomadrs373862340
Varsomers373862340
LitVarrs373862340
Maprs373862340
PheGenIrs373862340
Biobankrs373862340
1000 genomesrs373862340
hgdprs373862340
ensemblrs373862340
geneviewrs373862340
scholarrs373862340
googlers373862340
pharmgkbrs373862340
gwascentralrs373862340
openSNPrs373862340
23andMers373862340
SNPshotrs373862340
SNPdbers373862340
MSV3drs373862340
GWAS Ctlgrs373862340
Max Magnitude0
ClinVar
Risk rs373862340(A;A)
Alt rs373862340(A;A)
Reference Rs373862340(C;C)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 0
HGVS NC_000008.10:g.87656899C>A
CLNSRC
CLNACC RCV000169343.1,