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rs121917822

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917822(G;G)
Make rs121917822(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position75479525
GeneCHST6
is asnp
is mentioned by
dbSNPrs121917822
ebirs121917822
HLIrs121917822
Exacrs121917822
Varsomers121917822
Maprs121917822
PheGenIrs121917822
hapmaprs121917822
1000 genomesrs121917822
hgdprs121917822
ensemblrs121917822
gopubmedrs121917822
geneviewrs121917822
scholarrs121917822
googlers121917822
pharmgkbrs121917822
gwascentralrs121917822
openSNPrs121917822
23andMers121917822
23andMe allrs121917822
SNP Nexus

SNPshotrs121917822
SNPdbers121917822
MSV3drs121917822
GWAS Ctlgrs121917822
Max Magnitude0
ClinVar
Risk rs121917822(G;G)
Alt rs121917822(G;G)
Reference rs121917822(T;T)
Significance Pathogenic
Disease Macular corneal dystrophy Type I
Variation info
Gene CHST6
CLNDBN Macular corneal dystrophy Type I
Reversed 1
HGVS NC_000016.9:g.75513423A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005381.5,