rs137853147
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137853147(A;A) |
Make rs137853147(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 179130005 |
Gene | ADAMTS2 |
is a | snp |
is | mentioned by |
dbSNP | rs137853147 |
dbSNP (classic) | rs137853147 |
ClinGen | rs137853147 |
ebi | rs137853147 |
HLI | rs137853147 |
Exac | rs137853147 |
Gnomad | rs137853147 |
Varsome | rs137853147 |
LitVar | rs137853147 |
Map | rs137853147 |
PheGenI | rs137853147 |
Biobank | rs137853147 |
1000 genomes | rs137853147 |
hgdp | rs137853147 |
ensembl | rs137853147 |
geneview | rs137853147 |
scholar | rs137853147 |
rs137853147 | |
pharmgkb | rs137853147 |
gwascentral | rs137853147 |
openSNP | rs137853147 |
23andMe | rs137853147 |
SNPshot | rs137853147 |
SNPdbe | rs137853147 |
MSV3d | rs137853147 |
GWAS Ctlg | rs137853147 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853147(A;A) |
Alt | rs137853147(A;A) |
Reference | Rs137853147(G;G) |
Significance | Other |
Disease | Ehlers-Danlos syndrome |
Variation | info |
Gene | ADAMTS2 |
CLNDBN | Ehlers-Danlos syndrome, type vii, autosomal recessive |
Reversed | 1 |
HGVS | NC_000005.9:g.178557006C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005838.2, |