rs147334255
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs147334255(A;A) |
Make rs147334255(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 27750995 |
Gene | MN1 |
is a | snp |
is | mentioned by |
dbSNP | rs147334255 |
dbSNP (classic) | rs147334255 |
ClinGen | rs147334255 |
ebi | rs147334255 |
HLI | rs147334255 |
Exac | rs147334255 |
Gnomad | rs147334255 |
Varsome | rs147334255 |
LitVar | rs147334255 |
Map | rs147334255 |
PheGenI | rs147334255 |
Biobank | rs147334255 |
1000 genomes | rs147334255 |
hgdp | rs147334255 |
ensembl | rs147334255 |
geneview | rs147334255 |
scholar | rs147334255 |
rs147334255 | |
pharmgkb | rs147334255 |
gwascentral | rs147334255 |
openSNP | rs147334255 |
23andMe | rs147334255 |
SNPshot | rs147334255 |
SNPdbe | rs147334255 |
MSV3d | rs147334255 |
GWAS Ctlg | rs147334255 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147334255(A;A) |
Alt | rs147334255(A;A) |
Reference | Rs147334255(G;G) |
Significance | Probable-Pathogenic |
Disease | Inborn genetic diseases not specified |
Variation | info |
Gene | MN1 |
CLNDBN | Inborn genetic diseases not specified |
Reversed | 0 |
HGVS | NC_000022.10:g.28146983G>A |
CLNSRC | |
CLNACC | RCV000190793.1, RCV000413400.1, |