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rs869320751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869320751(-;G)
Make rs869320751(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position161791408
GeneATF6
is asnp
is mentioned by
dbSNPrs869320751
dbSNP (classic)rs869320751
ClinGenrs869320751
ebirs869320751
HLIrs869320751
Exacrs869320751
Gnomadrs869320751
Varsomers869320751
LitVarrs869320751
Maprs869320751
PheGenIrs869320751
Biobankrs869320751
1000 genomesrs869320751
hgdprs869320751
ensemblrs869320751
geneviewrs869320751
scholarrs869320751
googlers869320751
pharmgkbrs869320751
gwascentralrs869320751
openSNPrs869320751
23andMers869320751
SNPshotrs869320751
SNPdbers869320751
MSV3drs869320751
GWAS Ctlgrs869320751
Max Magnitude0
ClinVar
Risk rs869320751(G;G)
Alt rs869320751(G;G)
Reference Rs869320751(-;-)
Significance Pathogenic
Disease Achromatopsia 7
Variation info
Gene ATF6
CLNDBN Achromatopsia 7
Reversed 0
HGVS NC_000001.10:g.161761198dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000190367.2,