rs398123538
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs398123538(-;-) |
Make rs398123538(-;CA) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 121772605 |
Gene | IQCB1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123538 |
dbSNP (classic) | rs398123538 |
ClinGen | rs398123538 |
ebi | rs398123538 |
HLI | rs398123538 |
Exac | rs398123538 |
Gnomad | rs398123538 |
Varsome | rs398123538 |
LitVar | rs398123538 |
Map | rs398123538 |
PheGenI | rs398123538 |
Biobank | rs398123538 |
1000 genomes | rs398123538 |
hgdp | rs398123538 |
ensembl | rs398123538 |
geneview | rs398123538 |
scholar | rs398123538 |
rs398123538 | |
pharmgkb | rs398123538 |
gwascentral | rs398123538 |
openSNP | rs398123538 |
23andMe | rs398123538 |
SNPshot | rs398123538 |
SNPdbe | rs398123538 |
MSV3d | rs398123538 |
GWAS Ctlg | rs398123538 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123538(-;-) |
Alt | rs398123538(-;-) |
Reference | Rs398123538(CA;CA) |
Significance | Pathogenic |
Disease | not provided Senior-Loken syndrome 5 |
Variation | info |
Gene | IQCB1 |
CLNDBN | not provided Senior-Loken syndrome 5 |
Reversed | 1 |
HGVS | NC_000003.11:g.121491452_121491453delTG |
CLNSRC | HGMD |
CLNACC | RCV000079367.3, RCV000174695.1, |