rs138698098
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs138698098(C;T) |
Make rs138698098(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 11948035 |
Gene | PLOD1 |
is a | snp |
is | mentioned by |
dbSNP | rs138698098 |
dbSNP (classic) | rs138698098 |
ClinGen | rs138698098 |
ebi | rs138698098 |
HLI | rs138698098 |
Exac | rs138698098 |
Gnomad | rs138698098 |
Varsome | rs138698098 |
LitVar | rs138698098 |
Map | rs138698098 |
PheGenI | rs138698098 |
Biobank | rs138698098 |
1000 genomes | rs138698098 |
hgdp | rs138698098 |
ensembl | rs138698098 |
geneview | rs138698098 |
scholar | rs138698098 |
rs138698098 | |
pharmgkb | rs138698098 |
gwascentral | rs138698098 |
openSNP | rs138698098 |
23andMe | rs138698098 |
SNPshot | rs138698098 |
SNPdbe | rs138698098 |
MSV3d | rs138698098 |
GWAS Ctlg | rs138698098 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138698098(T;T) |
Alt | rs138698098(T;T) |
Reference | Rs138698098(C;C) |
Significance | Probable-Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | PLOD1 |
CLNDBN | Ehlers-Danlos syndrome, hydroxylysine-deficient |
Reversed | 0 |
HGVS | NC_000001.10:g.12008092C>T |
CLNSRC | |
CLNACC | RCV000202446.1, |