rs753268823
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs753268823(C;T) |
Make rs753268823(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 183222115 |
Gene | LAMC2 |
is a | snp |
is | mentioned by |
dbSNP | rs753268823 |
dbSNP (classic) | rs753268823 |
ClinGen | rs753268823 |
ebi | rs753268823 |
HLI | rs753268823 |
Exac | rs753268823 |
Gnomad | rs753268823 |
Varsome | rs753268823 |
LitVar | rs753268823 |
Map | rs753268823 |
PheGenI | rs753268823 |
Biobank | rs753268823 |
1000 genomes | rs753268823 |
hgdp | rs753268823 |
ensembl | rs753268823 |
geneview | rs753268823 |
scholar | rs753268823 |
rs753268823 | |
pharmgkb | rs753268823 |
gwascentral | rs753268823 |
openSNP | rs753268823 |
23andMe | rs753268823 |
SNPshot | rs753268823 |
SNPdbe | rs753268823 |
MSV3d | rs753268823 |
GWAS Ctlg | rs753268823 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs753268823(T;T) |
Alt | rs753268823(T;T) |
Reference | Rs753268823(C;C) |
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.183191250C>T |
CLNSRC | |
CLNACC | RCV000169121.1, |