rs797044447
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs797044447(-;-) |
Make rs797044447(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 11966985 |
Gene | PLOD1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044447 |
dbSNP (classic) | rs797044447 |
ClinGen | rs797044447 |
ebi | rs797044447 |
HLI | rs797044447 |
Exac | rs797044447 |
Gnomad | rs797044447 |
Varsome | rs797044447 |
LitVar | rs797044447 |
Map | rs797044447 |
PheGenI | rs797044447 |
Biobank | rs797044447 |
1000 genomes | rs797044447 |
hgdp | rs797044447 |
ensembl | rs797044447 |
geneview | rs797044447 |
scholar | rs797044447 |
rs797044447 | |
pharmgkb | rs797044447 |
gwascentral | rs797044447 |
openSNP | rs797044447 |
23andMe | rs797044447 |
SNPshot | rs797044447 |
SNPdbe | rs797044447 |
MSV3d | rs797044447 |
GWAS Ctlg | rs797044447 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044447(-;-) |
Alt | rs797044447(-;-) |
Reference | Rs797044447(A;A) |
Significance | Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | PLOD1 |
CLNDBN | Ehlers-Danlos syndrome, hydroxylysine-deficient |
Reversed | 0 |
HGVS | NC_000001.10:g.12027042delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015444.27, |