rs2241714
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs2241714(A;G) |
Make rs2241714(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 41363487 |
Gene | B9D2, TMEM91 |
is a | snp |
is | mentioned by |
dbSNP | rs2241714 |
dbSNP (classic) | rs2241714 |
ClinGen | rs2241714 |
ebi | rs2241714 |
HLI | rs2241714 |
Exac | rs2241714 |
Gnomad | rs2241714 |
Varsome | rs2241714 |
LitVar | rs2241714 |
Map | rs2241714 |
PheGenI | rs2241714 |
Biobank | rs2241714 |
1000 genomes | rs2241714 |
hgdp | rs2241714 |
ensembl | rs2241714 |
geneview | rs2241714 |
scholar | rs2241714 |
rs2241714 | |
pharmgkb | rs2241714 |
gwascentral | rs2241714 |
openSNP | rs2241714 |
23andMe | rs2241714 |
SNPshot | rs2241714 |
SNPdbe | rs2241714 |
MSV3d | rs2241714 |
GWAS Ctlg | rs2241714 |
GMAF | 0.3489 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 23094028] Genetic association analysis of complex diseases incorporating intermediate phenotype information
[PMID 18366677] Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission.
ClinVar | |
---|---|
Risk | rs2241714(G;G) |
Alt | rs2241714(G;G) |
Reference | Rs2241714(A;A) |
Significance | Non-pathogenic |
Disease | not specified Meckel-Gruber syndrome |
Variation | info |
Gene | B9D2 TMEM91 |
CLNDBN | not specified Meckel-Gruber syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.41869392T>C |
CLNSRC | |
CLNACC | RCV000251213.1, RCV000267709.1, |
[PMID 32007367] Association Between Polymorphisms in DNA Damage Repair Genes and Radiation Therapy-Induced Early Adverse Skin Reactions in a Breast Cancer Population: A Polygenic Risk Score Approach.