Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517388

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517388(A;G)
Make rs1057517388(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86578865
GeneCNGB3
is asnp
is mentioned by
dbSNPrs1057517388
dbSNP (old)rs1057517388
ClinGenrs1057517388
ebirs1057517388
HLIrs1057517388
Exacrs1057517388
Gnomadrs1057517388
Varsomers1057517388
Maprs1057517388
PheGenIrs1057517388
Biobankrs1057517388
1000 genomesrs1057517388
hgdprs1057517388
ensemblrs1057517388
gopubmedrs1057517388
geneviewrs1057517388
scholarrs1057517388
googlers1057517388
pharmgkbrs1057517388
gwascentralrs1057517388
openSNPrs1057517388
23andMers1057517388
23andMe allrs1057517388
SNPshotrs1057517388
SNPdbers1057517388
MSV3drs1057517388
GWAS Ctlgrs1057517388
Max Magnitude0
ClinVar
Risk rs1057517388(G;G)
Alt rs1057517388(G;G)
Reference Rs1057517388(A;A)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87591093T>C
CLNSRC
CLNACC RCV000410908.1,