rs28931605
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | |
(T;T) | 0 | common in complete genomics |
Make rs28931605(A;A) |
Make rs28931605(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 208124294 |
Gene | CRYGD, LOC100507443 |
is a | snp |
is | mentioned by |
dbSNP | rs28931605 |
dbSNP (classic) | rs28931605 |
ClinGen | rs28931605 |
ebi | rs28931605 |
HLI | rs28931605 |
Exac | rs28931605 |
Gnomad | rs28931605 |
Varsome | rs28931605 |
LitVar | rs28931605 |
Map | rs28931605 |
PheGenI | rs28931605 |
Biobank | rs28931605 |
1000 genomes | rs28931605 |
hgdp | rs28931605 |
ensembl | rs28931605 |
geneview | rs28931605 |
scholar | rs28931605 |
rs28931605 | |
pharmgkb | rs28931605 |
gwascentral | rs28931605 |
openSNP | rs28931605 |
23andMe | rs28931605 |
SNPshot | rs28931605 |
SNPdbe | rs28931605 |
MSV3d | rs28931605 |
GWAS Ctlg | rs28931605 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28931605(A;A) Rs28931605(T;T) |
Alt | rs28931605(A;A) Rs28931605(T;T) |
Reference | Rs28931605(C;C) |
Significance | Pathogenic |
Disease | Cataract 4 Congenital cataract |
Variation | info |
Gene | CRYGD LOC100507443 |
CLNDBN | Cataract 4 Congenital cataract |
Reversed | 1 |
HGVS | NC_000002.11:g.208989018G>A; NC_000002.11:g.208989018G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018451.30, RCV000018448.30, RCV000203330.1, |