rs141498002
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs141498002(G;T) |
Make rs141498002(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 16 |
Position | 8811099 |
Gene | PMM2 |
is a | snp |
is | mentioned by |
dbSNP | rs141498002 |
dbSNP (classic) | rs141498002 |
ClinGen | rs141498002 |
ebi | rs141498002 |
HLI | rs141498002 |
Exac | rs141498002 |
Gnomad | rs141498002 |
Varsome | rs141498002 |
LitVar | rs141498002 |
Map | rs141498002 |
PheGenI | rs141498002 |
Biobank | rs141498002 |
1000 genomes | rs141498002 |
hgdp | rs141498002 |
ensembl | rs141498002 |
geneview | rs141498002 |
scholar | rs141498002 |
rs141498002 | |
pharmgkb | rs141498002 |
gwascentral | rs141498002 |
openSNP | rs141498002 |
23andMe | rs141498002 |
SNPshot | rs141498002 |
SNPdbe | rs141498002 |
MSV3d | rs141498002 |
GWAS Ctlg | rs141498002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs141498002(A;A) rs141498002(T;T) |
Alt | rs141498002(A;A) rs141498002(T;T) |
Reference | Rs141498002(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PMM2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.8904956G>A |
CLNSRC | |
CLNACC | RCV000254854.1, |