rs606231159
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs606231159(-;-) |
Make rs606231159(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 40622647 |
Gene | LTBP4 |
is a | snp |
is | mentioned by |
dbSNP | rs606231159 |
dbSNP (classic) | rs606231159 |
ClinGen | rs606231159 |
ebi | rs606231159 |
HLI | rs606231159 |
Exac | rs606231159 |
Gnomad | rs606231159 |
Varsome | rs606231159 |
LitVar | rs606231159 |
Map | rs606231159 |
PheGenI | rs606231159 |
Biobank | rs606231159 |
1000 genomes | rs606231159 |
hgdp | rs606231159 |
ensembl | rs606231159 |
geneview | rs606231159 |
scholar | rs606231159 |
rs606231159 | |
pharmgkb | rs606231159 |
gwascentral | rs606231159 |
openSNP | rs606231159 |
23andMe | rs606231159 |
SNPshot | rs606231159 |
SNPdbe | rs606231159 |
MSV3d | rs606231159 |
GWAS Ctlg | rs606231159 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231159(-;-) |
Alt | rs606231159(-;-) |
Reference | Rs606231159(A;A) |
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.41128552delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005726.4, |