rs74315440
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs74315440(A;A) |
Make rs74315440(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 43169126 |
Gene | CRYAA, LOC107987300 |
is a | snp |
is | mentioned by |
dbSNP | rs74315440 |
dbSNP (classic) | rs74315440 |
ClinGen | rs74315440 |
ebi | rs74315440 |
HLI | rs74315440 |
Exac | rs74315440 |
Gnomad | rs74315440 |
Varsome | rs74315440 |
LitVar | rs74315440 |
Map | rs74315440 |
PheGenI | rs74315440 |
Biobank | rs74315440 |
1000 genomes | rs74315440 |
hgdp | rs74315440 |
ensembl | rs74315440 |
geneview | rs74315440 |
scholar | rs74315440 |
rs74315440 | |
pharmgkb | rs74315440 |
gwascentral | rs74315440 |
openSNP | rs74315440 |
23andMe | rs74315440 |
SNPshot | rs74315440 |
SNPdbe | rs74315440 |
MSV3d | rs74315440 |
GWAS Ctlg | rs74315440 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315440(A;A) |
Alt | rs74315440(A;A) |
Reference | Rs74315440(G;G) |
Significance | Pathogenic |
Disease | Cataract 9 |
Variation | info |
Gene | LOC102724652 CRYAA |
CLNDBN | Cataract 9, autosomal recessive |
Reversed | 0 |
HGVS | NC_000021.8:g.44589236G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018471.28, |