rs1057516688
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GC;GC) | 0 | common in clinvar |
Make rs1057516688(-;-) |
Make rs1057516688(-;GC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 18 |
Position | 23899431 |
Gene | LAMA3 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516688 |
dbSNP (classic) | rs1057516688 |
ClinGen | rs1057516688 |
ebi | rs1057516688 |
HLI | rs1057516688 |
Exac | rs1057516688 |
Gnomad | rs1057516688 |
Varsome | rs1057516688 |
LitVar | rs1057516688 |
Map | rs1057516688 |
PheGenI | rs1057516688 |
Biobank | rs1057516688 |
1000 genomes | rs1057516688 |
hgdp | rs1057516688 |
ensembl | rs1057516688 |
geneview | rs1057516688 |
scholar | rs1057516688 |
rs1057516688 | |
pharmgkb | rs1057516688 |
gwascentral | rs1057516688 |
openSNP | rs1057516688 |
23andMe | rs1057516688 |
SNPshot | rs1057516688 |
SNPdbe | rs1057516688 |
MSV3d | rs1057516688 |
GWAS Ctlg | rs1057516688 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516688(-;-) |
Alt | rs1057516688(-;-) |
Reference | Rs1057516688(GC;GC) |
Significance | Probable-Pathogenic |
Disease | Junctional epidermolysis bullosa gravis of Herlitz |
Variation | info |
Gene | LAMA3 |
CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz |
Reversed | 0 |
HGVS | NC_000018.9:g.21479395_21479396delGC |
CLNSRC | |
CLNACC | RCV000409897.1, |