rs757617349
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs757617349(C;T) |
Make rs757617349(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 183222157 |
Gene | LAMC2 |
is a | snp |
is | mentioned by |
dbSNP | rs757617349 |
dbSNP (classic) | rs757617349 |
ClinGen | rs757617349 |
ebi | rs757617349 |
HLI | rs757617349 |
Exac | rs757617349 |
Gnomad | rs757617349 |
Varsome | rs757617349 |
LitVar | rs757617349 |
Map | rs757617349 |
PheGenI | rs757617349 |
Biobank | rs757617349 |
1000 genomes | rs757617349 |
hgdp | rs757617349 |
ensembl | rs757617349 |
geneview | rs757617349 |
scholar | rs757617349 |
rs757617349 | |
pharmgkb | rs757617349 |
gwascentral | rs757617349 |
openSNP | rs757617349 |
23andMe | rs757617349 |
SNPshot | rs757617349 |
SNPdbe | rs757617349 |
MSV3d | rs757617349 |
GWAS Ctlg | rs757617349 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757617349(A;A) rs757617349(T;T) |
Alt | rs757617349(A;A) rs757617349(T;T) |
Reference | Rs757617349(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.183191292C>T |
CLNSRC | |
CLNACC | RCV000412046.1, |