Have questions? Visit https://www.reddit.com/r/SNPedia

rs121917824

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917824(C;C)
Make rs121917824(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position75479002
GeneCHST6
is asnp
is mentioned by
dbSNPrs121917824
ebirs121917824
HLIrs121917824
Exacrs121917824
Varsomers121917824
Maprs121917824
PheGenIrs121917824
hapmaprs121917824
1000 genomesrs121917824
hgdprs121917824
ensemblrs121917824
gopubmedrs121917824
geneviewrs121917824
scholarrs121917824
googlers121917824
pharmgkbrs121917824
gwascentralrs121917824
openSNPrs121917824
23andMers121917824
23andMe allrs121917824
SNP Nexus

SNPshotrs121917824
SNPdbers121917824
MSV3drs121917824
GWAS Ctlgrs121917824
Max Magnitude0
ClinVar
Risk rs121917824(C;C)
Alt rs121917824(C;C)
Reference rs121917824(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.75512900A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005383.5,