rs1085307849
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CC;CC) | 0 | common in clinvar |
Chromosome | 3 |
Position | 48588384 |
Gene | COL7A1 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307849 |
dbSNP (classic) | rs1085307849 |
ClinGen | rs1085307849 |
ebi | rs1085307849 |
HLI | rs1085307849 |
Exac | rs1085307849 |
Gnomad | rs1085307849 |
Varsome | rs1085307849 |
LitVar | rs1085307849 |
Map | rs1085307849 |
PheGenI | rs1085307849 |
Biobank | rs1085307849 |
1000 genomes | rs1085307849 |
hgdp | rs1085307849 |
ensembl | rs1085307849 |
geneview | rs1085307849 |
scholar | rs1085307849 |
rs1085307849 | |
pharmgkb | rs1085307849 |
gwascentral | rs1085307849 |
openSNP | rs1085307849 |
23andMe | rs1085307849 |
SNPshot | rs1085307849 |
SNPdbe | rs1085307849 |
MSV3d | rs1085307849 |
GWAS Ctlg | rs1085307849 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307849(-;-) |
Alt | rs1085307849(-;-) |
Reference | Rs1085307849(CC;CC) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL7A1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000003.11:g.48625817_48625818delGG |
CLNSRC | |
CLNACC | RCV000489634.1, |