rs118203985
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs118203985(G;G) |
Make rs118203985(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 150556974 |
Gene | ADAMTSL4, LOC100289061 |
is a | snp |
is | mentioned by |
dbSNP | rs118203985 |
dbSNP (classic) | rs118203985 |
ClinGen | rs118203985 |
ebi | rs118203985 |
HLI | rs118203985 |
Exac | rs118203985 |
Gnomad | rs118203985 |
Varsome | rs118203985 |
LitVar | rs118203985 |
Map | rs118203985 |
PheGenI | rs118203985 |
Biobank | rs118203985 |
1000 genomes | rs118203985 |
hgdp | rs118203985 |
ensembl | rs118203985 |
geneview | rs118203985 |
scholar | rs118203985 |
rs118203985 | |
pharmgkb | rs118203985 |
gwascentral | rs118203985 |
openSNP | rs118203985 |
23andMe | rs118203985 |
SNPshot | rs118203985 |
SNPdbe | rs118203985 |
MSV3d | rs118203985 |
GWAS Ctlg | rs118203985 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203985(G;G) |
Alt | rs118203985(G;G) |
Reference | Rs118203985(T;T) |
Significance | Pathogenic |
Disease | Ectopia lentis |
Variation | info |
Gene | ADAMTSL4 LOC100289061 |
CLNDBN | Ectopia lentis, isolated autosomal recessive |
Reversed | 0 |
HGVS | NC_000001.10:g.150529450T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001414.3, |