rs11575934
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs11575934(A;G) |
Make rs11575934(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 18075808 |
Gene | IL12RB1 |
is a | snp |
is | mentioned by |
dbSNP | rs11575934 |
dbSNP (classic) | rs11575934 |
ClinGen | rs11575934 |
ebi | rs11575934 |
HLI | rs11575934 |
Exac | rs11575934 |
Gnomad | rs11575934 |
Varsome | rs11575934 |
LitVar | rs11575934 |
Map | rs11575934 |
PheGenI | rs11575934 |
Biobank | rs11575934 |
1000 genomes | rs11575934 |
hgdp | rs11575934 |
ensembl | rs11575934 |
geneview | rs11575934 |
scholar | rs11575934 |
rs11575934 | |
pharmgkb | rs11575934 |
gwascentral | rs11575934 |
openSNP | rs11575934 |
23andMe | rs11575934 |
SNPshot | rs11575934 |
SNPdbe | rs11575934 |
MSV3d | rs11575934 |
GWAS Ctlg | rs11575934 |
GMAF | 0.2585 |
Max Magnitude | 0 |
[PMID 23280621] Nucleotide variation in IL10 and IL12 and their receptors and cervical and vulvar cancer risk: A hybrid case-parent triad and case-control study
? | (A;A) (A;G) (G;G) | |
---|---|---|
|
[PMID 19460324] A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
[PMID 20350312] Polymorphisms in genes of interleukin 12 and its receptors and their association with protection against severe malarial anaemia in children in western Kenya.
[PMID 28289589] Polymorphism of the IL13 gene may be associated with Uterine leiomyomas in Slovenian women.
ClinVar | |
---|---|
Risk | rs11575934(G;G) |
Alt | rs11575934(G;G) |
Reference | Rs11575934(A;A) |
Significance | Non-pathogenic |
Disease | Familial Atypical Mycobacteriosis not specified |
Variation | info |
Gene | IL12RB1 |
CLNDBN | Familial Atypical Mycobacteriosis, Autosomal Recessive not specified |
Reversed | 1 |
HGVS | NC_000019.9:g.18186618T>C |
CLNSRC | |
CLNACC | RCV000395252.1, RCV000454739.1, |