rs121912932
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5.5 | Ehlers-Danlos Syndrome (EDS) classic type |
(G;G) | 0 | common in clinvar |
Make rs121912932(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 134820135 |
Gene | COL5A1, LOC101448202 |
is a | snp |
is | mentioned by |
dbSNP | rs121912932 |
dbSNP (classic) | rs121912932 |
ClinGen | rs121912932 |
ebi | rs121912932 |
HLI | rs121912932 |
Exac | rs121912932 |
Gnomad | rs121912932 |
Varsome | rs121912932 |
LitVar | rs121912932 |
Map | rs121912932 |
PheGenI | rs121912932 |
Biobank | rs121912932 |
1000 genomes | rs121912932 |
hgdp | rs121912932 |
ensembl | rs121912932 |
geneview | rs121912932 |
scholar | rs121912932 |
rs121912932 | |
pharmgkb | rs121912932 |
gwascentral | rs121912932 |
openSNP | rs121912932 |
23andMe | rs121912932 |
SNPshot | rs121912932 |
SNPdbe | rs121912932 |
MSV3d | rs121912932 |
GWAS Ctlg | rs121912932 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs121912932(A;A) |
Alt | rs121912932(A;A) |
Reference | Rs121912932(G;G) |
Significance | Pathogenic |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | COL5A1 |
CLNDBN | Ehlers-Danlos syndrome, classic type |
Reversed | 0 |
HGVS | NC_000009.11:g.137711981G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018729.28, |