rs774133746
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs774133746(C;T) |
Make rs774133746(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 18 |
Position | 23928148 |
Gene | LAMA3 |
is a | snp |
is | mentioned by |
dbSNP | rs774133746 |
dbSNP (classic) | rs774133746 |
ClinGen | rs774133746 |
ebi | rs774133746 |
HLI | rs774133746 |
Exac | rs774133746 |
Gnomad | rs774133746 |
Varsome | rs774133746 |
LitVar | rs774133746 |
Map | rs774133746 |
PheGenI | rs774133746 |
Biobank | rs774133746 |
1000 genomes | rs774133746 |
hgdp | rs774133746 |
ensembl | rs774133746 |
geneview | rs774133746 |
scholar | rs774133746 |
rs774133746 | |
pharmgkb | rs774133746 |
gwascentral | rs774133746 |
openSNP | rs774133746 |
23andMe | rs774133746 |
SNPshot | rs774133746 |
SNPdbe | rs774133746 |
MSV3d | rs774133746 |
GWAS Ctlg | rs774133746 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774133746(T;T) |
Alt | rs774133746(T;T) |
Reference | Rs774133746(C;C) |
Significance | Probable-Pathogenic |
Disease | Junctional epidermolysis bullosa gravis of Herlitz |
Variation | info |
Gene | LAMA3 |
CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz |
Reversed | 0 |
HGVS | NC_000018.9:g.21508112C>T |
CLNSRC | |
CLNACC | RCV000411334.1, |