rs121912841
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation |
(G;G) | 0 | common in clinvar |
Make rs121912841(C;C) |
Make rs121912841(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 48578497 |
Gene | COL7A1, MIR711 |
is a | snp |
is | mentioned by |
dbSNP | rs121912841 |
dbSNP (classic) | rs121912841 |
ClinGen | rs121912841 |
ebi | rs121912841 |
HLI | rs121912841 |
Exac | rs121912841 |
Gnomad | rs121912841 |
Varsome | rs121912841 |
LitVar | rs121912841 |
Map | rs121912841 |
PheGenI | rs121912841 |
Biobank | rs121912841 |
1000 genomes | rs121912841 |
hgdp | rs121912841 |
ensembl | rs121912841 |
geneview | rs121912841 |
scholar | rs121912841 |
rs121912841 | |
pharmgkb | rs121912841 |
gwascentral | rs121912841 |
openSNP | rs121912841 |
23andMe | rs121912841 |
SNPshot | rs121912841 |
SNPdbe | rs121912841 |
MSV3d | rs121912841 |
GWAS Ctlg | rs121912841 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs121912841(A;A) rs121912841(C;C) |
Alt | rs121912841(A;A) rs121912841(C;C) |
Reference | Rs121912841(G;G) |
Significance | Pathogenic |
Disease | Dominant dystrophic epidermolysis bullosa with absence of skin Recessive dystrophic epidermolysis bullosa Nail disorder |
Variation | info |
Gene | MIR711 COL7A1 |
CLNDBN | Dominant dystrophic epidermolysis bullosa with absence of skin Recessive dystrophic epidermolysis bullosa Nail disorder, nonsyndromic congenital, 8 |
Reversed | 1 |
HGVS | NC_000003.11:g.48615930C>T |
CLNSRC | COL7A1 database OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144373.1, RCV000225690.2, RCV000256181.1, |
[PMID 11843659] Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.