rs11466026
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs11466026(C;G) |
Make rs11466026(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 3248947 |
Gene | MEFV |
is a | snp |
is | mentioned by |
dbSNP | rs11466026 |
dbSNP (classic) | rs11466026 |
ClinGen | rs11466026 |
ebi | rs11466026 |
HLI | rs11466026 |
Exac | rs11466026 |
Gnomad | rs11466026 |
Varsome | rs11466026 |
LitVar | rs11466026 |
Map | rs11466026 |
PheGenI | rs11466026 |
Biobank | rs11466026 |
1000 genomes | rs11466026 |
hgdp | rs11466026 |
ensembl | rs11466026 |
geneview | rs11466026 |
scholar | rs11466026 |
rs11466026 | |
pharmgkb | rs11466026 |
gwascentral | rs11466026 |
openSNP | rs11466026 |
23andMe | rs11466026 |
SNPshot | rs11466026 |
SNPdbe | rs11466026 |
MSV3d | rs11466026 |
GWAS Ctlg | rs11466026 |
GMAF | 0.003673 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs11466026(G;G) rs11466026(T;T) |
Alt | rs11466026(G;G) rs11466026(T;T) |
Reference | Rs11466026(C;C) |
Significance | Probable-Pathogenic |
Disease | Familial Mediterranean fever not specified |
Variation | info |
Gene | MEFV |
CLNDBN | Familial Mediterranean fever not specified |
Reversed | 1 |
HGVS | NC_000016.9:g.3298947G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000030171.2, RCV000221686.1, |