rs368482584
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs368482584(C;T) |
Make rs368482584(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 150557296 |
Gene | ADAMTSL4, LOC100289061 |
is a | snp |
is | mentioned by |
dbSNP | rs368482584 |
dbSNP (classic) | rs368482584 |
ClinGen | rs368482584 |
ebi | rs368482584 |
HLI | rs368482584 |
Exac | rs368482584 |
Gnomad | rs368482584 |
Varsome | rs368482584 |
LitVar | rs368482584 |
Map | rs368482584 |
PheGenI | rs368482584 |
Biobank | rs368482584 |
1000 genomes | rs368482584 |
hgdp | rs368482584 |
ensembl | rs368482584 |
geneview | rs368482584 |
scholar | rs368482584 |
rs368482584 | |
pharmgkb | rs368482584 |
gwascentral | rs368482584 |
openSNP | rs368482584 |
23andMe | rs368482584 |
SNPshot | rs368482584 |
SNPdbe | rs368482584 |
MSV3d | rs368482584 |
GWAS Ctlg | rs368482584 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs368482584(T;T) |
Alt | rs368482584(T;T) |
Reference | Rs368482584(C;C) |
Significance | Pathogenic |
Disease | Ectopia lentis |
Variation | info |
Gene | ADAMTSL4 |
CLNDBN | Ectopia lentis, isolated autosomal recessive |
Reversed | 0 |
HGVS | NC_000001.10:g.150529772C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032757.2, |