rs398122994
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398122994(-;-) |
Make rs398122994(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 73452450 |
Gene | ALMS1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122994 |
dbSNP (classic) | rs398122994 |
ClinGen | rs398122994 |
ebi | rs398122994 |
HLI | rs398122994 |
Exac | rs398122994 |
Gnomad | rs398122994 |
Varsome | rs398122994 |
LitVar | rs398122994 |
Map | rs398122994 |
PheGenI | rs398122994 |
Biobank | rs398122994 |
1000 genomes | rs398122994 |
hgdp | rs398122994 |
ensembl | rs398122994 |
geneview | rs398122994 |
scholar | rs398122994 |
rs398122994 | |
pharmgkb | rs398122994 |
gwascentral | rs398122994 |
openSNP | rs398122994 |
23andMe | rs398122994 |
SNPshot | rs398122994 |
SNPdbe | rs398122994 |
MSV3d | rs398122994 |
GWAS Ctlg | rs398122994 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122994(-;-) |
Alt | rs398122994(-;-) |
Reference | Rs398122994(G;G) |
Significance | Pathogenic |
Disease | not provided Alstrom syndrome |
Variation | info |
Gene | ALMS1 |
CLNDBN | not provided Alstrom syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.73679577delG |
CLNSRC | |
CLNACC | RCV000077809.1, RCV000210449.1, |