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rs121917826

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917826(A;A)
Make rs121917826(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position75479552
GeneCHST6
is asnp
is mentioned by
dbSNPrs121917826
dbSNP (classic)rs121917826
ClinGenrs121917826
ebirs121917826
HLIrs121917826
Exacrs121917826
Gnomadrs121917826
Varsomers121917826
LitVarrs121917826
Maprs121917826
PheGenIrs121917826
Biobankrs121917826
1000 genomesrs121917826
hgdprs121917826
ensemblrs121917826
geneviewrs121917826
scholarrs121917826
googlers121917826
pharmgkbrs121917826
gwascentralrs121917826
openSNPrs121917826
23andMers121917826
SNPshotrs121917826
SNPdbers121917826
MSV3drs121917826
GWAS Ctlgrs121917826
Max Magnitude0
ClinVar
Risk rs121917826(A;A) rs121917826(T;T)
Alt rs121917826(A;A) rs121917826(T;T)
Reference Rs121917826(C;C)
Significance Pathogenic
Disease Macular corneal dystrophy
Variation info
Gene CHST6
CLNDBN Macular corneal dystrophy, type II
Reversed 1
HGVS NC_000016.9:g.75513450G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005384.4,