rs118203965
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs118203965(A;T) |
Make rs118203965(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 33850969 |
Gene | CHMP4B |
is a | snp |
is | mentioned by |
dbSNP | rs118203965 |
dbSNP (classic) | rs118203965 |
ClinGen | rs118203965 |
ebi | rs118203965 |
HLI | rs118203965 |
Exac | rs118203965 |
Gnomad | rs118203965 |
Varsome | rs118203965 |
LitVar | rs118203965 |
Map | rs118203965 |
PheGenI | rs118203965 |
Biobank | rs118203965 |
1000 genomes | rs118203965 |
hgdp | rs118203965 |
ensembl | rs118203965 |
geneview | rs118203965 |
scholar | rs118203965 |
rs118203965 | |
pharmgkb | rs118203965 |
gwascentral | rs118203965 |
openSNP | rs118203965 |
23andMe | rs118203965 |
SNPshot | rs118203965 |
SNPdbe | rs118203965 |
MSV3d | rs118203965 |
GWAS Ctlg | rs118203965 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203965(T;T) |
Alt | rs118203965(T;T) |
Reference | Rs118203965(A;A) |
Significance | Pathogenic |
Disease | Cataract |
Variation | info |
Gene | CHMP4B |
CLNDBN | Cataract, posterior polar, 3 |
Reversed | 0 |
HGVS | NC_000020.10:g.32438775A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001143.3, |