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rs140263599

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140263599(C;T)
Make rs140263599(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position6843073
GeneGNB3
is asnp
is mentioned by
dbSNPrs140263599
dbSNP (classic)rs140263599
ClinGenrs140263599
ebirs140263599
HLIrs140263599
Exacrs140263599
Gnomadrs140263599
Varsomers140263599
LitVarrs140263599
Maprs140263599
PheGenIrs140263599
Biobankrs140263599
1000 genomesrs140263599
hgdprs140263599
ensemblrs140263599
geneviewrs140263599
scholarrs140263599
googlers140263599
pharmgkbrs140263599
gwascentralrs140263599
openSNPrs140263599
23andMers140263599
SNPshotrs140263599
SNPdbers140263599
MSV3drs140263599
GWAS Ctlgrs140263599
Max Magnitude0
ClinVar
Risk rs140263599(T;T)
Alt rs140263599(T;T)
Reference Rs140263599(C;C)
Significance Pathogenic
Disease Night blindness
Variation info
Gene GNB3
CLNDBN Night blindness, congenital stationary, type 1h
Reversed 0
HGVS NC_000012.11:g.6952237C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000234967.2,