rs191295403
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs191295403(C;T) |
Make rs191295403(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 8811098 |
Gene | PMM2 |
is a | snp |
is | mentioned by |
dbSNP | rs191295403 |
dbSNP (classic) | rs191295403 |
ClinGen | rs191295403 |
ebi | rs191295403 |
HLI | rs191295403 |
Exac | rs191295403 |
Gnomad | rs191295403 |
Varsome | rs191295403 |
LitVar | rs191295403 |
Map | rs191295403 |
PheGenI | rs191295403 |
Biobank | rs191295403 |
1000 genomes | rs191295403 |
hgdp | rs191295403 |
ensembl | rs191295403 |
geneview | rs191295403 |
scholar | rs191295403 |
rs191295403 | |
pharmgkb | rs191295403 |
gwascentral | rs191295403 |
openSNP | rs191295403 |
23andMe | rs191295403 |
SNPshot | rs191295403 |
SNPdbe | rs191295403 |
MSV3d | rs191295403 |
GWAS Ctlg | rs191295403 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs191295403(T;T) |
Alt | rs191295403(T;T) |
Reference | Rs191295403(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PMM2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.8904955C>T |
CLNSRC | |
CLNACC | RCV000492943.1, |