rs121917824
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121917824(C;C) |
Make rs121917824(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 75479002 |
Gene | CHST6 |
is a | snp |
is | mentioned by |
dbSNP | rs121917824 |
dbSNP (classic) | rs121917824 |
ClinGen | rs121917824 |
ebi | rs121917824 |
HLI | rs121917824 |
Exac | rs121917824 |
Gnomad | rs121917824 |
Varsome | rs121917824 |
LitVar | rs121917824 |
Map | rs121917824 |
PheGenI | rs121917824 |
Biobank | rs121917824 |
1000 genomes | rs121917824 |
hgdp | rs121917824 |
ensembl | rs121917824 |
geneview | rs121917824 |
scholar | rs121917824 |
rs121917824 | |
pharmgkb | rs121917824 |
gwascentral | rs121917824 |
openSNP | rs121917824 |
23andMe | rs121917824 |
SNPshot | rs121917824 |
SNPdbe | rs121917824 |
MSV3d | rs121917824 |
GWAS Ctlg | rs121917824 |
Max Magnitude | 0 |
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 UniProtKB (protein) |
CLNACC | RCV000005383.5, |