rs121917736
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121917736(A;G) |
Make rs121917736(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 79599013 |
Gene | LOC101928230, MAF |
is a | snp |
is | mentioned by |
dbSNP | rs121917736 |
dbSNP (classic) | rs121917736 |
ClinGen | rs121917736 |
ebi | rs121917736 |
HLI | rs121917736 |
Exac | rs121917736 |
Gnomad | rs121917736 |
Varsome | rs121917736 |
LitVar | rs121917736 |
Map | rs121917736 |
PheGenI | rs121917736 |
Biobank | rs121917736 |
1000 genomes | rs121917736 |
hgdp | rs121917736 |
ensembl | rs121917736 |
geneview | rs121917736 |
scholar | rs121917736 |
rs121917736 | |
pharmgkb | rs121917736 |
gwascentral | rs121917736 |
openSNP | rs121917736 |
23andMe | rs121917736 |
SNPshot | rs121917736 |
SNPdbe | rs121917736 |
MSV3d | rs121917736 |
GWAS Ctlg | rs121917736 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917736(G;G) |
Alt | rs121917736(G;G) |
Reference | Rs121917736(A;A) |
Significance | Pathogenic |
Disease | Cataract |
Variation | info |
Gene | MAF LOC101928230 |
CLNDBN | Cataract, pulverulent, juvenile-onset |
Reversed | 1 |
HGVS | NC_000016.9:g.79632910T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014137.18, |