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rs1057517053

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGGC;AGGC) 0 common in clinvar
Make rs1057517053(-;-)
Make rs1057517053(-;AGGC)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86668103
GeneCNGB3
is asnp
is mentioned by
dbSNPrs1057517053
dbSNP (old)rs1057517053
ClinGenrs1057517053
ebirs1057517053
HLIrs1057517053
Exacrs1057517053
Gnomadrs1057517053
Varsomers1057517053
LitVarrs1057517053
Maprs1057517053
PheGenIrs1057517053
Biobankrs1057517053
1000 genomesrs1057517053
hgdprs1057517053
ensemblrs1057517053
gopubmedrs1057517053
geneviewrs1057517053
scholarrs1057517053
googlers1057517053
pharmgkbrs1057517053
gwascentralrs1057517053
openSNPrs1057517053
23andMers1057517053
23andMe allrs1057517053
SNPshotrs1057517053
SNPdbers1057517053
MSV3drs1057517053
GWAS Ctlgrs1057517053
Max Magnitude0
ClinVar
Risk rs1057517053(-;-)
Alt rs1057517053(-;-)
Reference Rs1057517053(AGGC;AGGC)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87680331_87680334delGCCT
CLNSRC
CLNACC RCV000409215.1,