rs760714959
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs760714959(A;A) |
Make rs760714959(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 104037688 |
Gene | COL17A1 |
is a | snp |
is | mentioned by |
dbSNP | rs760714959 |
dbSNP (classic) | rs760714959 |
ClinGen | rs760714959 |
ebi | rs760714959 |
HLI | rs760714959 |
Exac | rs760714959 |
Gnomad | rs760714959 |
Varsome | rs760714959 |
LitVar | rs760714959 |
Map | rs760714959 |
PheGenI | rs760714959 |
Biobank | rs760714959 |
1000 genomes | rs760714959 |
hgdp | rs760714959 |
ensembl | rs760714959 |
geneview | rs760714959 |
scholar | rs760714959 |
rs760714959 | |
pharmgkb | rs760714959 |
gwascentral | rs760714959 |
openSNP | rs760714959 |
23andMe | rs760714959 |
SNPshot | rs760714959 |
SNPdbe | rs760714959 |
MSV3d | rs760714959 |
GWAS Ctlg | rs760714959 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760714959(A;A) |
Alt | rs760714959(A;A) |
Reference | Rs760714959(G;G) |
Significance | Pathogenic |
Disease | Epithelial recurrent erosion dystrophy |
Variation | info |
Gene | COL17A1 |
CLNDBN | Epithelial recurrent erosion dystrophy |
Reversed | 0 |
HGVS | NC_000010.10:g.105797446G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190897.3, |