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rs1057516791

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516791(-;-)
Make rs1057516791(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86671025
GeneCNGB3
is asnp
is mentioned by
dbSNPrs1057516791
dbSNP (old)rs1057516791
ClinGenrs1057516791
ebirs1057516791
HLIrs1057516791
Exacrs1057516791
Gnomadrs1057516791
Varsomers1057516791
Maprs1057516791
PheGenIrs1057516791
Biobankrs1057516791
1000 genomesrs1057516791
hgdprs1057516791
ensemblrs1057516791
gopubmedrs1057516791
geneviewrs1057516791
scholarrs1057516791
googlers1057516791
pharmgkbrs1057516791
gwascentralrs1057516791
openSNPrs1057516791
23andMers1057516791
23andMe allrs1057516791
SNPshotrs1057516791
SNPdbers1057516791
MSV3drs1057516791
GWAS Ctlgrs1057516791
Max Magnitude0
ClinVar
Risk rs1057516791(-;-)
Alt rs1057516791(-;-)
Reference Rs1057516791(A;A)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87683253delT
CLNSRC
CLNACC RCV000409440.1,