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rs761357250

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs761357250(C;T)
Make rs761357250(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position161819693
GeneATF6
is asnp
is mentioned by
dbSNPrs761357250
ebirs761357250
HLIrs761357250
Exacrs761357250
Varsomers761357250
Maprs761357250
PheGenIrs761357250
hapmaprs761357250
1000 genomesrs761357250
hgdprs761357250
ensemblrs761357250
gopubmedrs761357250
geneviewrs761357250
scholarrs761357250
googlers761357250
pharmgkbrs761357250
gwascentralrs761357250
openSNPrs761357250
23andMers761357250
23andMe allrs761357250
SNP Nexus

SNPshotrs761357250
SNPdbers761357250
MSV3drs761357250
GWAS Ctlgrs761357250
Max Magnitude0
ClinVar
Risk rs761357250(T;T)
Alt rs761357250(T;T)
Reference rs761357250(C;C)
Significance Pathogenic
Disease Achromatopsia 7
Variation info
Gene ATF6
CLNDBN Achromatopsia 7
Reversed 0
HGVS NC_000001.10:g.161789483C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190368.4,