rs104895565
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(A;A) | 0 | common in clinvar |
Make rs104895565(-;TT) |
Make rs104895565(TT;TT) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 53809584 |
Gene | NLRP12 |
is a | snp |
is | mentioned by |
dbSNP | rs104895565 |
dbSNP (classic) | rs104895565 |
ClinGen | rs104895565 |
ebi | rs104895565 |
HLI | rs104895565 |
Exac | rs104895565 |
Gnomad | rs104895565 |
Varsome | rs104895565 |
LitVar | rs104895565 |
Map | rs104895565 |
PheGenI | rs104895565 |
Biobank | rs104895565 |
1000 genomes | rs104895565 |
hgdp | rs104895565 |
ensembl | rs104895565 |
geneview | rs104895565 |
scholar | rs104895565 |
rs104895565 | |
pharmgkb | rs104895565 |
gwascentral | rs104895565 |
openSNP | rs104895565 |
23andMe | rs104895565 |
SNPshot | rs104895565 |
SNPdbe | rs104895565 |
MSV3d | rs104895565 |
GWAS Ctlg | rs104895565 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104895565(TT;TT) rs104895565(T;T) |
Alt | rs104895565(TT;TT) rs104895565(T;T) |
Reference | Rs104895565(-;-) |
Significance | Pathogenic |
Disease | Familial cold autoinflammatory syndrome 2 not provided |
Variation | info |
Gene | NLRP12 |
CLNDBN | Familial cold autoinflammatory syndrome 2 not provided |
Reversed | 1 |
HGVS | NC_000019.9:g.54312839dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001664.3, RCV000084144.1, |