rs749720760
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs749720760(C;C) |
Make rs749720760(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 16 |
Position | 8801823 |
Gene | PMM2 |
is a | snp |
is | mentioned by |
dbSNP | rs749720760 |
dbSNP (classic) | rs749720760 |
ClinGen | rs749720760 |
ebi | rs749720760 |
HLI | rs749720760 |
Exac | rs749720760 |
Gnomad | rs749720760 |
Varsome | rs749720760 |
LitVar | rs749720760 |
Map | rs749720760 |
PheGenI | rs749720760 |
Biobank | rs749720760 |
1000 genomes | rs749720760 |
hgdp | rs749720760 |
ensembl | rs749720760 |
geneview | rs749720760 |
scholar | rs749720760 |
rs749720760 | |
pharmgkb | rs749720760 |
gwascentral | rs749720760 |
openSNP | rs749720760 |
23andMe | rs749720760 |
SNPshot | rs749720760 |
SNPdbe | rs749720760 |
MSV3d | rs749720760 |
GWAS Ctlg | rs749720760 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749720760(C;C) |
Alt | rs749720760(C;C) |
Reference | Rs749720760(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | PMM2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.8895680T>C |
CLNSRC | |
CLNACC | RCV000487831.1, |