rs1154233
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(G;G) | 0 | common in complete genomics |
Make rs1154233(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 23931125 |
Gene | LAMA3 |
is a | snp |
is | mentioned by |
dbSNP | rs1154233 |
dbSNP (classic) | rs1154233 |
ClinGen | rs1154233 |
ebi | rs1154233 |
HLI | rs1154233 |
Exac | rs1154233 |
Gnomad | rs1154233 |
Varsome | rs1154233 |
LitVar | rs1154233 |
Map | rs1154233 |
PheGenI | rs1154233 |
Biobank | rs1154233 |
1000 genomes | rs1154233 |
hgdp | rs1154233 |
ensembl | rs1154233 |
geneview | rs1154233 |
scholar | rs1154233 |
rs1154233 | |
pharmgkb | rs1154233 |
gwascentral | rs1154233 |
openSNP | rs1154233 |
23andMe | rs1154233 |
SNPshot | rs1154233 |
SNPdbe | rs1154233 |
MSV3d | rs1154233 |
GWAS Ctlg | rs1154233 |
GMAF | 0 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs1154233(G;G) |
Alt | Rs1154233(G;G) |
Reference | Rs1154233(A;A) |
Significance | Non-pathogenic |
Disease | not specified Laryngoonychocutaneous syndrome Epidermolysis bullosa |
Variation | info |
Gene | LAMA3 |
CLNDBN | not specified Laryngoonychocutaneous syndrome Epidermolysis bullosa, junctional |
Reversed | 0 |
HGVS | NC_000018.9:g.21511089A>G |
CLNSRC | |
CLNACC | RCV000242248.1, RCV000270352.1, RCV000383453.1, |