rs121917826
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121917826(A;A) |
Make rs121917826(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 75479552 |
Gene | CHST6 |
is a | snp |
is | mentioned by |
dbSNP | rs121917826 |
dbSNP (classic) | rs121917826 |
ClinGen | rs121917826 |
ebi | rs121917826 |
HLI | rs121917826 |
Exac | rs121917826 |
Gnomad | rs121917826 |
Varsome | rs121917826 |
LitVar | rs121917826 |
Map | rs121917826 |
PheGenI | rs121917826 |
Biobank | rs121917826 |
1000 genomes | rs121917826 |
hgdp | rs121917826 |
ensembl | rs121917826 |
geneview | rs121917826 |
scholar | rs121917826 |
rs121917826 | |
pharmgkb | rs121917826 |
gwascentral | rs121917826 |
openSNP | rs121917826 |
23andMe | rs121917826 |
SNPshot | rs121917826 |
SNPdbe | rs121917826 |
MSV3d | rs121917826 |
GWAS Ctlg | rs121917826 |
Max Magnitude | 0 |
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, |