rs5743277
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs5743277(C;T) |
Make rs5743277(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 50712018 |
Gene | NOD2 |
is a | snp |
is | mentioned by |
dbSNP | rs5743277 |
dbSNP (classic) | rs5743277 |
ClinGen | rs5743277 |
ebi | rs5743277 |
HLI | rs5743277 |
Exac | rs5743277 |
Gnomad | rs5743277 |
Varsome | rs5743277 |
LitVar | rs5743277 |
Map | rs5743277 |
PheGenI | rs5743277 |
Biobank | rs5743277 |
1000 genomes | rs5743277 |
hgdp | rs5743277 |
ensembl | rs5743277 |
geneview | rs5743277 |
scholar | rs5743277 |
rs5743277 | |
pharmgkb | rs5743277 |
gwascentral | rs5743277 |
openSNP | rs5743277 |
23andMe | rs5743277 |
SNPshot | rs5743277 |
SNPdbe | rs5743277 |
MSV3d | rs5743277 |
GWAS Ctlg | rs5743277 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
NOD2 SNP, aka R703C
One of 11 SNPs used in a genetic risk score for inflammatory bowel disease [PMID 27802154]
ClinVar | |
---|---|
Risk | rs5743277(G;G) rs5743277(T;T) |
Alt | rs5743277(G;G) rs5743277(T;T) |
Reference | Rs5743277(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Crohn disease Blau syndrome not provided |
Variation | info |
Gene | NOD2 |
CLNDBN | not specified Crohn disease Blau syndrome not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.50745929C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000178334.1, RCV000330236.1, RCV000368536.1, RCV000488013.1, |