rs398122948
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398122948(A;A) |
Make rs398122948(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 208121796 |
Gene | CRYGD, LOC100507443 |
is a | snp |
is | mentioned by |
dbSNP | rs398122948 |
dbSNP (classic) | rs398122948 |
ClinGen | rs398122948 |
ebi | rs398122948 |
HLI | rs398122948 |
Exac | rs398122948 |
Gnomad | rs398122948 |
Varsome | rs398122948 |
LitVar | rs398122948 |
Map | rs398122948 |
PheGenI | rs398122948 |
Biobank | rs398122948 |
1000 genomes | rs398122948 |
hgdp | rs398122948 |
ensembl | rs398122948 |
geneview | rs398122948 |
scholar | rs398122948 |
rs398122948 | |
pharmgkb | rs398122948 |
gwascentral | rs398122948 |
openSNP | rs398122948 |
23andMe | rs398122948 |
SNPshot | rs398122948 |
SNPdbe | rs398122948 |
MSV3d | rs398122948 |
GWAS Ctlg | rs398122948 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122948(A;A) rs398122948(T;T) |
Alt | rs398122948(A;A) rs398122948(T;T) |
Reference | Rs398122948(C;C) |
Significance | Pathogenic |
Disease | Cataract 4 |
Variation | info |
Gene | LOC100507443 CRYGD |
CLNDBN | Cataract 4 |
Reversed | 1 |
HGVS | NC_000002.11:g.208986520G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000059331.27, |