rs730880024
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs730880024(-;-) |
Make rs730880024(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 7584510 |
Gene | DSP |
is a | snp |
is | mentioned by |
dbSNP | rs730880024 |
dbSNP (classic) | rs730880024 |
ClinGen | rs730880024 |
ebi | rs730880024 |
HLI | rs730880024 |
Exac | rs730880024 |
Gnomad | rs730880024 |
Varsome | rs730880024 |
LitVar | rs730880024 |
Map | rs730880024 |
PheGenI | rs730880024 |
Biobank | rs730880024 |
1000 genomes | rs730880024 |
hgdp | rs730880024 |
ensembl | rs730880024 |
geneview | rs730880024 |
scholar | rs730880024 |
rs730880024 | |
pharmgkb | rs730880024 |
gwascentral | rs730880024 |
openSNP | rs730880024 |
23andMe | rs730880024 |
SNPshot | rs730880024 |
SNPdbe | rs730880024 |
MSV3d | rs730880024 |
GWAS Ctlg | rs730880024 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880024(-;-) |
Alt | rs730880024(-;-) |
Reference | Rs730880024(T;T) |
Significance | Pathogenic |
Disease | Epidermolysis bullosa |
Variation | info |
Gene | DSP |
CLNDBN | Epidermolysis bullosa, lethal acantholytic |
Reversed | 0 |
HGVS | NC_000006.11:g.7584743delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000157033.4, |