rs121913552
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121913552(C;G) |
Make rs121913552(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 11965542 |
Gene | PLOD1 |
is a | snp |
is | mentioned by |
dbSNP | rs121913552 |
dbSNP (classic) | rs121913552 |
ClinGen | rs121913552 |
ebi | rs121913552 |
HLI | rs121913552 |
Exac | rs121913552 |
Gnomad | rs121913552 |
Varsome | rs121913552 |
LitVar | rs121913552 |
Map | rs121913552 |
PheGenI | rs121913552 |
Biobank | rs121913552 |
1000 genomes | rs121913552 |
hgdp | rs121913552 |
ensembl | rs121913552 |
geneview | rs121913552 |
scholar | rs121913552 |
rs121913552 | |
pharmgkb | rs121913552 |
gwascentral | rs121913552 |
openSNP | rs121913552 |
23andMe | rs121913552 |
SNPshot | rs121913552 |
SNPdbe | rs121913552 |
MSV3d | rs121913552 |
GWAS Ctlg | rs121913552 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913552(G;G) |
Alt | rs121913552(G;G) |
Reference | Rs121913552(C;C) |
Significance | Pathogenic |
Disease | Ehlers-Danlos syndrome not provided |
Variation | info |
Gene | PLOD1 |
CLNDBN | Ehlers-Danlos syndrome, hydroxylysine-deficient not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.12025599C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015447.28, RCV000255839.1, |