rs104895323
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs104895323(-;G) |
Make rs104895323(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 109581444 |
Gene | MVK |
is a | snp |
is | mentioned by |
dbSNP | rs104895323 |
dbSNP (classic) | rs104895323 |
ClinGen | rs104895323 |
ebi | rs104895323 |
HLI | rs104895323 |
Exac | rs104895323 |
Gnomad | rs104895323 |
Varsome | rs104895323 |
LitVar | rs104895323 |
Map | rs104895323 |
PheGenI | rs104895323 |
Biobank | rs104895323 |
1000 genomes | rs104895323 |
hgdp | rs104895323 |
ensembl | rs104895323 |
geneview | rs104895323 |
scholar | rs104895323 |
rs104895323 | |
pharmgkb | rs104895323 |
gwascentral | rs104895323 |
openSNP | rs104895323 |
23andMe | rs104895323 |
SNPshot | rs104895323 |
SNPdbe | rs104895323 |
MSV3d | rs104895323 |
GWAS Ctlg | rs104895323 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104895323(G;G) |
Alt | rs104895323(G;G) |
Reference | Rs104895323(-;-) |
Significance | Pathogenic |
Disease | Hyperimmunoglobulin D with periodic fever |
Variation | info |
Gene | MVK |
CLNDBN | Hyperimmunoglobulin D with periodic fever |
Reversed | 0 |
HGVS | NC_000012.11:g.110019249dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000083842.4, |