rs151190720
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs151190720(C;T) |
Make rs151190720(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 183236593 |
Gene | LAMC2 |
is a | snp |
is | mentioned by |
dbSNP | rs151190720 |
dbSNP (classic) | rs151190720 |
ClinGen | rs151190720 |
ebi | rs151190720 |
HLI | rs151190720 |
Exac | rs151190720 |
Gnomad | rs151190720 |
Varsome | rs151190720 |
LitVar | rs151190720 |
Map | rs151190720 |
PheGenI | rs151190720 |
Biobank | rs151190720 |
1000 genomes | rs151190720 |
hgdp | rs151190720 |
ensembl | rs151190720 |
geneview | rs151190720 |
scholar | rs151190720 |
rs151190720 | |
pharmgkb | rs151190720 |
gwascentral | rs151190720 |
openSNP | rs151190720 |
23andMe | rs151190720 |
SNPshot | rs151190720 |
SNPdbe | rs151190720 |
MSV3d | rs151190720 |
GWAS Ctlg | rs151190720 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151190720(G;G) rs151190720(T;T) |
Alt | rs151190720(G;G) rs151190720(T;T) |
Reference | Rs151190720(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.183205728C>T |
CLNSRC | |
CLNACC | RCV000411449.1, |