rs104895382
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104895382(C;C) |
Make rs104895382(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 109579921 |
Gene | MVK |
is a | snp |
is | mentioned by |
dbSNP | rs104895382 |
dbSNP (classic) | rs104895382 |
ClinGen | rs104895382 |
ebi | rs104895382 |
HLI | rs104895382 |
Exac | rs104895382 |
Gnomad | rs104895382 |
Varsome | rs104895382 |
LitVar | rs104895382 |
Map | rs104895382 |
PheGenI | rs104895382 |
Biobank | rs104895382 |
1000 genomes | rs104895382 |
hgdp | rs104895382 |
ensembl | rs104895382 |
geneview | rs104895382 |
scholar | rs104895382 |
rs104895382 | |
pharmgkb | rs104895382 |
gwascentral | rs104895382 |
openSNP | rs104895382 |
23andMe | rs104895382 |
SNPshot | rs104895382 |
SNPdbe | rs104895382 |
MSV3d | rs104895382 |
GWAS Ctlg | rs104895382 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104895382(C;C) |
Alt | rs104895382(C;C) |
Reference | Rs104895382(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.110017726T>C |
CLNSRC | |
CLNACC | RCV000083833.1, RCV000220019.2, |