rs759509443
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs759509443(A;A) |
Make rs759509443(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 183208070 |
Gene | LAMC2 |
is a | snp |
is | mentioned by |
dbSNP | rs759509443 |
dbSNP (classic) | rs759509443 |
ClinGen | rs759509443 |
ebi | rs759509443 |
HLI | rs759509443 |
Exac | rs759509443 |
Gnomad | rs759509443 |
Varsome | rs759509443 |
LitVar | rs759509443 |
Map | rs759509443 |
PheGenI | rs759509443 |
Biobank | rs759509443 |
1000 genomes | rs759509443 |
hgdp | rs759509443 |
ensembl | rs759509443 |
geneview | rs759509443 |
scholar | rs759509443 |
rs759509443 | |
pharmgkb | rs759509443 |
gwascentral | rs759509443 |
openSNP | rs759509443 |
23andMe | rs759509443 |
SNPshot | rs759509443 |
SNPdbe | rs759509443 |
MSV3d | rs759509443 |
GWAS Ctlg | rs759509443 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759509443(A;A) |
Alt | rs759509443(A;A) |
Reference | Rs759509443(G;G) |
Significance | Probable-Pathogenic |
Disease | Junctional epidermolysis bullosa gravis of Herlitz |
Variation | info |
Gene | LAMC2 |
CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz |
Reversed | 0 |
HGVS | NC_000001.10:g.183177205G>A |
CLNSRC | |
CLNACC | RCV000411347.1, |