rs104895332
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104895332(C;C) |
Make rs104895332(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 109586102 |
Gene | MVK |
is a | snp |
is | mentioned by |
dbSNP | rs104895332 |
dbSNP (classic) | rs104895332 |
ClinGen | rs104895332 |
ebi | rs104895332 |
HLI | rs104895332 |
Exac | rs104895332 |
Gnomad | rs104895332 |
Varsome | rs104895332 |
LitVar | rs104895332 |
Map | rs104895332 |
PheGenI | rs104895332 |
Biobank | rs104895332 |
1000 genomes | rs104895332 |
hgdp | rs104895332 |
ensembl | rs104895332 |
geneview | rs104895332 |
scholar | rs104895332 |
rs104895332 | |
pharmgkb | rs104895332 |
gwascentral | rs104895332 |
openSNP | rs104895332 |
23andMe | rs104895332 |
SNPshot | rs104895332 |
SNPdbe | rs104895332 |
MSV3d | rs104895332 |
GWAS Ctlg | rs104895332 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104895332(C;C) |
Alt | rs104895332(C;C) |
Reference | Rs104895332(T;T) |
Significance | Pathogenic |
Disease | Hyperimmunoglobulin D with periodic fever not provided |
Variation | info |
Gene | MVK |
CLNDBN | Hyperimmunoglobulin D with periodic fever not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.110023907T>C |
CLNSRC | |
CLNACC | RCV000083853.1, RCV000217732.1, |