rs121912845
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation |
Make rs121912845(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 48580301 |
Gene | COL7A1, MIR711 |
is a | snp |
is | mentioned by |
dbSNP | rs121912845 |
dbSNP (classic) | rs121912845 |
ClinGen | rs121912845 |
ebi | rs121912845 |
HLI | rs121912845 |
Exac | rs121912845 |
Gnomad | rs121912845 |
Varsome | rs121912845 |
LitVar | rs121912845 |
Map | rs121912845 |
PheGenI | rs121912845 |
Biobank | rs121912845 |
1000 genomes | rs121912845 |
hgdp | rs121912845 |
ensembl | rs121912845 |
geneview | rs121912845 |
scholar | rs121912845 |
rs121912845 | |
pharmgkb | rs121912845 |
gwascentral | rs121912845 |
openSNP | rs121912845 |
23andMe | rs121912845 |
SNPshot | rs121912845 |
SNPdbe | rs121912845 |
MSV3d | rs121912845 |
GWAS Ctlg | rs121912845 |
Max Magnitude | 3 |
COL7A1 gene, c.5096C>T (p.Pro1699Leu)
23andMe name: i5004269
ClinVar | |
---|---|
Risk | rs121912845(T;T) |
Alt | rs121912845(T;T) |
Reference | Rs121912845(C;C) |
Significance | Pathogenic |
Disease | Epidermolysis bullosa |
Variation | info |
Gene | MIR711 COL7A1 |
CLNDBN | Epidermolysis bullosa, pretibial, autosomal recessive |
Reversed | 1 |
HGVS | NC_000003.11:g.48617734G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019002.24, |