rs794726689
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794726689(-;-) |
Make rs794726689(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 150553058 |
Gene | ADAMTSL4, LOC100289061 |
is a | snp |
is | mentioned by |
dbSNP | rs794726689 |
dbSNP (classic) | rs794726689 |
ClinGen | rs794726689 |
ebi | rs794726689 |
HLI | rs794726689 |
Exac | rs794726689 |
Gnomad | rs794726689 |
Varsome | rs794726689 |
LitVar | rs794726689 |
Map | rs794726689 |
PheGenI | rs794726689 |
Biobank | rs794726689 |
1000 genomes | rs794726689 |
hgdp | rs794726689 |
ensembl | rs794726689 |
geneview | rs794726689 |
scholar | rs794726689 |
rs794726689 | |
pharmgkb | rs794726689 |
gwascentral | rs794726689 |
openSNP | rs794726689 |
23andMe | rs794726689 |
SNPshot | rs794726689 |
SNPdbe | rs794726689 |
MSV3d | rs794726689 |
GWAS Ctlg | rs794726689 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794726689(-;-) |
Alt | rs794726689(-;-) |
Reference | Rs794726689(C;C) |
Significance | Pathogenic |
Disease | Ectopia lentis |
Variation | info |
Gene | LOC100289061 ADAMTSL4 |
CLNDBN | Ectopia lentis, isolated autosomal recessive |
Reversed | 0 |
HGVS | NC_000001.10:g.150525534delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032758.4, |