rs2017698
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2017698(C;T) |
Make rs2017698(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 49834979 |
Gene | MED25 |
is a | snp |
is | mentioned by |
dbSNP | rs2017698 |
dbSNP (classic) | rs2017698 |
ClinGen | rs2017698 |
ebi | rs2017698 |
HLI | rs2017698 |
Exac | rs2017698 |
Gnomad | rs2017698 |
Varsome | rs2017698 |
LitVar | rs2017698 |
Map | rs2017698 |
PheGenI | rs2017698 |
Biobank | rs2017698 |
1000 genomes | rs2017698 |
hgdp | rs2017698 |
ensembl | rs2017698 |
geneview | rs2017698 |
scholar | rs2017698 |
rs2017698 | |
pharmgkb | rs2017698 |
gwascentral | rs2017698 |
openSNP | rs2017698 |
23andMe | rs2017698 |
SNPshot | rs2017698 |
SNPdbe | rs2017698 |
MSV3d | rs2017698 |
GWAS Ctlg | rs2017698 |
GMAF | 0.008264 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
GWAS snp | |
---|---|
PMID | [PMID 23720494] |
Trait | Blood trace element (Se levels) |
Title | Genome-wide association study identifies loci affecting blood copper, selenium and zinc. |
Risk Allele | |
P-val | 1E-7 |
Odds Ratio | .49 [0.31-0.67] unit increase |
ClinVar | |
---|---|
Risk | rs2017698(T;T) |
Alt | rs2017698(T;T) |
Reference | Rs2017698(C;C) |
Significance | Non-pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | MED25 |
CLNDBN | Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000019.9:g.50338236C>T |
CLNSRC | |
CLNACC | RCV000204774.3, |