rs797045107
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GCTTCGCCA;GCTTCGCCA) | 0 | common in clinvar |
Make rs797045107(C;C) |
Make rs797045107(C;GCTTCGCCA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 3234173 |
Gene | SLC4A11 |
is a | snp |
is | mentioned by |
dbSNP | rs797045107 |
dbSNP (classic) | rs797045107 |
ClinGen | rs797045107 |
ebi | rs797045107 |
HLI | rs797045107 |
Exac | rs797045107 |
Gnomad | rs797045107 |
Varsome | rs797045107 |
LitVar | rs797045107 |
Map | rs797045107 |
PheGenI | rs797045107 |
Biobank | rs797045107 |
1000 genomes | rs797045107 |
hgdp | rs797045107 |
ensembl | rs797045107 |
geneview | rs797045107 |
scholar | rs797045107 |
rs797045107 | |
pharmgkb | rs797045107 |
gwascentral | rs797045107 |
openSNP | rs797045107 |
23andMe | rs797045107 |
SNPshot | rs797045107 |
SNPdbe | rs797045107 |
MSV3d | rs797045107 |
GWAS Ctlg | rs797045107 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045107(C;C) |
Alt | rs797045107(C;C) |
Reference | Rs797045107(GCTTCGCCA;GCTTCGCCA) |
Significance | Pathogenic |
Disease | Corneal endothelial dystrophy type 2 |
Variation | info |
Gene | SLC4A11 |
CLNDBN | Corneal endothelial dystrophy type 2 |
Reversed | 1 |
HGVS | NC_000020.10:g.3214819_3214827delinsG |
CLNSRC | |
CLNACC | RCV000190625.1, |