rs104895431
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104895431(C;T) |
Make rs104895431(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 50711203 |
Gene | NOD2 |
is a | snp |
is | mentioned by |
dbSNP | rs104895431 |
dbSNP (classic) | rs104895431 |
ClinGen | rs104895431 |
ebi | rs104895431 |
HLI | rs104895431 |
Exac | rs104895431 |
Gnomad | rs104895431 |
Varsome | rs104895431 |
LitVar | rs104895431 |
Map | rs104895431 |
PheGenI | rs104895431 |
Biobank | rs104895431 |
1000 genomes | rs104895431 |
hgdp | rs104895431 |
ensembl | rs104895431 |
geneview | rs104895431 |
scholar | rs104895431 |
rs104895431 | |
pharmgkb | rs104895431 |
gwascentral | rs104895431 |
openSNP | rs104895431 |
23andMe | rs104895431 |
SNPshot | rs104895431 |
SNPdbe | rs104895431 |
MSV3d | rs104895431 |
GWAS Ctlg | rs104895431 |
Max Magnitude | 0 |
NOD2 SNP, aka S431L
One of 11 SNPs used in a genetic risk score for inflammatory bowel disease [PMID 27802154]
ClinVar | |
---|---|
Risk | rs104895431(T;T) |
Alt | rs104895431(T;T) |
Reference | Rs104895431(C;C) |
Significance | Probable-non-pathogenic |
Disease | Sarcoidosis Crohn disease |
Variation | info |
Gene | NOD2 |
CLNDBN | Sarcoidosis, early-onset Crohn disease |
Reversed | 0 |
HGVS | NC_000016.9:g.50745114C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000084081.1, RCV000322747.1, |