rs121912772
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121912772(G;G) |
Make rs121912772(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 104041526 |
Gene | COL17A1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912772 |
dbSNP (classic) | rs121912772 |
ClinGen | rs121912772 |
ebi | rs121912772 |
HLI | rs121912772 |
Exac | rs121912772 |
Gnomad | rs121912772 |
Varsome | rs121912772 |
LitVar | rs121912772 |
Map | rs121912772 |
PheGenI | rs121912772 |
Biobank | rs121912772 |
1000 genomes | rs121912772 |
hgdp | rs121912772 |
ensembl | rs121912772 |
geneview | rs121912772 |
scholar | rs121912772 |
rs121912772 | |
pharmgkb | rs121912772 |
gwascentral | rs121912772 |
openSNP | rs121912772 |
23andMe | rs121912772 |
SNPshot | rs121912772 |
SNPdbe | rs121912772 |
MSV3d | rs121912772 |
GWAS Ctlg | rs121912772 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912772(G;G) |
Alt | rs121912772(G;G) |
Reference | Rs121912772(T;T) |
Significance | Pathogenic |
Disease | Adult junctional epidermolysis bullosa |
Variation | info |
Gene | COL17A1 |
CLNDBN | Adult junctional epidermolysis bullosa |
Reversed | 1 |
HGVS | NC_000010.10:g.105801284A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019224.29, |