rs398124310
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398124310(-;A) |
Make rs398124310(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 46197729 |
Gene | POMGNT1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124310 |
dbSNP (classic) | rs398124310 |
ClinGen | rs398124310 |
ebi | rs398124310 |
HLI | rs398124310 |
Exac | rs398124310 |
Gnomad | rs398124310 |
Varsome | rs398124310 |
LitVar | rs398124310 |
Map | rs398124310 |
PheGenI | rs398124310 |
Biobank | rs398124310 |
1000 genomes | rs398124310 |
hgdp | rs398124310 |
ensembl | rs398124310 |
geneview | rs398124310 |
scholar | rs398124310 |
rs398124310 | |
pharmgkb | rs398124310 |
gwascentral | rs398124310 |
openSNP | rs398124310 |
23andMe | rs398124310 |
SNPshot | rs398124310 |
SNPdbe | rs398124310 |
MSV3d | rs398124310 |
GWAS Ctlg | rs398124310 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124310(A;A) |
Alt | rs398124310(A;A) |
Reference | Rs398124310(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | POMGNT1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.46663402dupT |
CLNSRC | ClinVar |
CLNACC | RCV000081806.3, |