rs869320617
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGCCCGTCTGC;TGCCCGTCTGC) | 0 | common in clinvar |
Make rs869320617(GGCCGGCCGG;GGCCGGCCGG) |
Make rs869320617(GGCCGGCCGG;TGCCCGTCTGC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 3229017 |
Gene | SLC4A11 |
is a | snp |
is | mentioned by |
dbSNP | rs869320617 |
dbSNP (classic) | rs869320617 |
ClinGen | rs869320617 |
ebi | rs869320617 |
HLI | rs869320617 |
Exac | rs869320617 |
Gnomad | rs869320617 |
Varsome | rs869320617 |
LitVar | rs869320617 |
Map | rs869320617 |
PheGenI | rs869320617 |
Biobank | rs869320617 |
1000 genomes | rs869320617 |
hgdp | rs869320617 |
ensembl | rs869320617 |
geneview | rs869320617 |
scholar | rs869320617 |
rs869320617 | |
pharmgkb | rs869320617 |
gwascentral | rs869320617 |
openSNP | rs869320617 |
23andMe | rs869320617 |
SNPshot | rs869320617 |
SNPdbe | rs869320617 |
MSV3d | rs869320617 |
GWAS Ctlg | rs869320617 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320617(GGCCGGCCGG;GGCCGGCCGG) |
Alt | rs869320617(GGCCGGCCGG;GGCCGGCCGG) |
Reference | Rs869320617(TGCCCGTCTGC;TGCCCGTCTGC) |
Significance | Pathogenic |
Disease | Corneal endothelial dystrophy |
Variation | info |
Gene | SLC4A11 |
CLNDBN | Corneal endothelial dystrophy |
Reversed | 1 |
HGVS | NC_000020.10:g.3209663_3209673delGCAGACGGGCAinsCCGGCCGGCC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001373.3, |