rs1057516444
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057516444(-;AA) |
Make rs1057516444(AA;AA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 183220880 |
Gene | LAMC2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516444 |
dbSNP (classic) | rs1057516444 |
ClinGen | rs1057516444 |
ebi | rs1057516444 |
HLI | rs1057516444 |
Exac | rs1057516444 |
Gnomad | rs1057516444 |
Varsome | rs1057516444 |
LitVar | rs1057516444 |
Map | rs1057516444 |
PheGenI | rs1057516444 |
Biobank | rs1057516444 |
1000 genomes | rs1057516444 |
hgdp | rs1057516444 |
ensembl | rs1057516444 |
geneview | rs1057516444 |
scholar | rs1057516444 |
rs1057516444 | |
pharmgkb | rs1057516444 |
gwascentral | rs1057516444 |
openSNP | rs1057516444 |
23andMe | rs1057516444 |
SNPshot | rs1057516444 |
SNPdbe | rs1057516444 |
MSV3d | rs1057516444 |
GWAS Ctlg | rs1057516444 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516444(AA;AA) |
Alt | rs1057516444(AA;AA) |
Reference | Rs1057516444(-;-) |
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.183190015_183190016insAA |
CLNSRC | |
CLNACC | RCV000410149.1, |