rs774080932
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs774080932(C;C) |
Make rs774080932(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 183230960 |
Gene | LAMC2 |
is a | snp |
is | mentioned by |
dbSNP | rs774080932 |
dbSNP (classic) | rs774080932 |
ClinGen | rs774080932 |
ebi | rs774080932 |
HLI | rs774080932 |
Exac | rs774080932 |
Gnomad | rs774080932 |
Varsome | rs774080932 |
LitVar | rs774080932 |
Map | rs774080932 |
PheGenI | rs774080932 |
Biobank | rs774080932 |
1000 genomes | rs774080932 |
hgdp | rs774080932 |
ensembl | rs774080932 |
geneview | rs774080932 |
scholar | rs774080932 |
rs774080932 | |
pharmgkb | rs774080932 |
gwascentral | rs774080932 |
openSNP | rs774080932 |
23andMe | rs774080932 |
SNPshot | rs774080932 |
SNPdbe | rs774080932 |
MSV3d | rs774080932 |
GWAS Ctlg | rs774080932 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774080932(C;C) |
Alt | rs774080932(C;C) |
Reference | Rs774080932(G;G) |
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.183200095G>C |
CLNSRC | |
CLNACC | RCV000409444.1, |