rs606231160
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs606231160(-;-) |
Make rs606231160(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 40605739 |
Gene | LTBP4 |
is a | snp |
is | mentioned by |
dbSNP | rs606231160 |
dbSNP (classic) | rs606231160 |
ClinGen | rs606231160 |
ebi | rs606231160 |
HLI | rs606231160 |
Exac | rs606231160 |
Gnomad | rs606231160 |
Varsome | rs606231160 |
LitVar | rs606231160 |
Map | rs606231160 |
PheGenI | rs606231160 |
Biobank | rs606231160 |
1000 genomes | rs606231160 |
hgdp | rs606231160 |
ensembl | rs606231160 |
geneview | rs606231160 |
scholar | rs606231160 |
rs606231160 | |
pharmgkb | rs606231160 |
gwascentral | rs606231160 |
openSNP | rs606231160 |
23andMe | rs606231160 |
SNPshot | rs606231160 |
SNPdbe | rs606231160 |
MSV3d | rs606231160 |
GWAS Ctlg | rs606231160 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231160(-;-) |
Alt | rs606231160(-;-) |
Reference | Rs606231160(C;C) |
Significance | Pathogenic |
Disease | Cutis laxa with severe pulmonary |
Variation | info |
Gene | LTBP4 |
CLNDBN | Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities |
Reversed | 0 |
HGVS | NC_000019.9:g.41111645delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005727.4, |