rs7255721
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs7255721(C;C) |
Make rs7255721(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 8605046 |
Gene | ADAMTS10 |
is a | snp |
is | mentioned by |
dbSNP | rs7255721 |
dbSNP (classic) | rs7255721 |
ClinGen | rs7255721 |
ebi | rs7255721 |
HLI | rs7255721 |
Exac | rs7255721 |
Gnomad | rs7255721 |
Varsome | rs7255721 |
LitVar | rs7255721 |
Map | rs7255721 |
PheGenI | rs7255721 |
Biobank | rs7255721 |
1000 genomes | rs7255721 |
hgdp | rs7255721 |
ensembl | rs7255721 |
geneview | rs7255721 |
scholar | rs7255721 |
rs7255721 | |
pharmgkb | rs7255721 |
gwascentral | rs7255721 |
openSNP | rs7255721 |
23andMe | rs7255721 |
SNPshot | rs7255721 |
SNPdbe | rs7255721 |
MSV3d | rs7255721 |
GWAS Ctlg | rs7255721 |
GMAF | 0.1478 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
[PMID 19836009] Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
ClinVar | |
---|---|
Risk | rs7255721(C;C) |
Alt | rs7255721(C;C) |
Reference | Rs7255721(G;G) |
Significance | Non-pathogenic |
Disease | Weill-Marchesani syndrome |
Variation | info |
Gene | ADAMTS10 |
CLNDBN | Weill-Marchesani syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.8669931G>C |
CLNSRC | |
CLNACC | RCV000374892.1, |