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rs796065053

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs796065053(A;A)
Make rs796065053(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position161863292
GeneATF6
is asnp
is mentioned by
dbSNPrs796065053
ebirs796065053
HLIrs796065053
Exacrs796065053
Varsomers796065053
Maprs796065053
PheGenIrs796065053
hapmaprs796065053
1000 genomesrs796065053
hgdprs796065053
ensemblrs796065053
gopubmedrs796065053
geneviewrs796065053
scholarrs796065053
googlers796065053
pharmgkbrs796065053
gwascentralrs796065053
openSNPrs796065053
23andMers796065053
23andMe allrs796065053
SNP Nexus

SNPshotrs796065053
SNPdbers796065053
MSV3drs796065053
GWAS Ctlgrs796065053
Max Magnitude0
ClinVar
Risk rs796065053(A;A)
Alt rs796065053(A;A)
Reference rs796065053(T;T)
Significance Pathogenic
Disease Achromatopsia 7
Variation info
Gene ATF6
CLNDBN Achromatopsia 7
Reversed 0
HGVS NC_000001.10:g.161833082T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190372.3,