rs370148688
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs370148688(C;C) |
Make rs370148688(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 209633135 |
Gene | LAMB3 |
is a | snp |
is | mentioned by |
dbSNP | rs370148688 |
dbSNP (classic) | rs370148688 |
ClinGen | rs370148688 |
ebi | rs370148688 |
HLI | rs370148688 |
Exac | rs370148688 |
Gnomad | rs370148688 |
Varsome | rs370148688 |
LitVar | rs370148688 |
Map | rs370148688 |
PheGenI | rs370148688 |
Biobank | rs370148688 |
1000 genomes | rs370148688 |
hgdp | rs370148688 |
ensembl | rs370148688 |
geneview | rs370148688 |
scholar | rs370148688 |
rs370148688 | |
pharmgkb | rs370148688 |
gwascentral | rs370148688 |
openSNP | rs370148688 |
23andMe | rs370148688 |
SNPshot | rs370148688 |
SNPdbe | rs370148688 |
MSV3d | rs370148688 |
GWAS Ctlg | rs370148688 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370148688(C;C) rs370148688(G;G) |
Alt | rs370148688(C;C) rs370148688(G;G) |
Reference | Rs370148688(T;T) |
Significance | Pathogenic |
Disease | Junctional epidermolysis bullosa gravis of Herlitz |
Variation | info |
Gene | LAMB3 |
CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz |
Reversed | 0 |
HGVS | NC_000001.10:g.209806480T>C; NC_000001.10:g.209806480T>G |
CLNSRC | |
CLNACC | RCV000169196.1, RCV000411405.1, |