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rs797045172

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045172(C;C)
Make rs797045172(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position161853324
GeneATF6
is asnp
is mentioned by
dbSNPrs797045172
ebirs797045172
HLIrs797045172
Exacrs797045172
Varsomers797045172
Maprs797045172
PheGenIrs797045172
hapmaprs797045172
1000 genomesrs797045172
hgdprs797045172
ensemblrs797045172
gopubmedrs797045172
geneviewrs797045172
scholarrs797045172
googlers797045172
pharmgkbrs797045172
gwascentralrs797045172
openSNPrs797045172
23andMers797045172
23andMe allrs797045172
SNP Nexus

SNPshotrs797045172
SNPdbers797045172
MSV3drs797045172
GWAS Ctlgrs797045172
Max Magnitude0
ClinVar
Risk rs797045172(C;C)
Alt rs797045172(C;C)
Reference rs797045172(G;G)
Significance Pathogenic
Disease Achromatopsia 7
Variation info
Gene ATF6
CLNDBN Achromatopsia 7
Reversed 0
HGVS NC_000001.10:g.161823114G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000191038.3,