rs752375653
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs752375653(-;-) |
Make rs752375653(-;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 65546812 |
Gene | LTBP3 |
is a | snp |
is | mentioned by |
dbSNP | rs752375653 |
dbSNP (classic) | rs752375653 |
ClinGen | rs752375653 |
ebi | rs752375653 |
HLI | rs752375653 |
Exac | rs752375653 |
Gnomad | rs752375653 |
Varsome | rs752375653 |
LitVar | rs752375653 |
Map | rs752375653 |
PheGenI | rs752375653 |
Biobank | rs752375653 |
1000 genomes | rs752375653 |
hgdp | rs752375653 |
ensembl | rs752375653 |
geneview | rs752375653 |
scholar | rs752375653 |
rs752375653 | |
pharmgkb | rs752375653 |
gwascentral | rs752375653 |
openSNP | rs752375653 |
23andMe | rs752375653 |
SNPshot | rs752375653 |
SNPdbe | rs752375653 |
MSV3d | rs752375653 |
GWAS Ctlg | rs752375653 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752375653(-;-) |
Alt | rs752375653(-;-) |
Reference | Rs752375653(C;C) |
Significance | Pathogenic |
Disease | Verloes Bourguignon syndrome |
Variation | info |
Gene | LTBP3 |
CLNDBN | Verloes Bourguignon syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.65314283delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000186565.2, |