rs387907342
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387907342(-;-) |
Make rs387907342(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 208145954 |
Gene | CRYGB, LOC100507443 |
is a | snp |
is | mentioned by |
dbSNP | rs387907342 |
dbSNP (classic) | rs387907342 |
ClinGen | rs387907342 |
ebi | rs387907342 |
HLI | rs387907342 |
Exac | rs387907342 |
Gnomad | rs387907342 |
Varsome | rs387907342 |
LitVar | rs387907342 |
Map | rs387907342 |
PheGenI | rs387907342 |
Biobank | rs387907342 |
1000 genomes | rs387907342 |
hgdp | rs387907342 |
ensembl | rs387907342 |
geneview | rs387907342 |
scholar | rs387907342 |
rs387907342 | |
pharmgkb | rs387907342 |
gwascentral | rs387907342 |
openSNP | rs387907342 |
23andMe | rs387907342 |
SNPshot | rs387907342 |
SNPdbe | rs387907342 |
MSV3d | rs387907342 |
GWAS Ctlg | rs387907342 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907342(-;-) |
Alt | rs387907342(-;-) |
Reference | Rs387907342(C;C) |
Significance | Pathogenic |
Disease | Cataract 39 |
Variation | info |
Gene | LOC100507443 CRYGB |
CLNDBN | Cataract 39, multiple types |
Reversed | 1 |
HGVS | NC_000002.11:g.209010678delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034854.27, |