rs104895157
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104895157(C;T) |
Make rs104895157(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 3249675 |
Gene | MEFV |
is a | snp |
is | mentioned by |
dbSNP | rs104895157 |
dbSNP (classic) | rs104895157 |
ClinGen | rs104895157 |
ebi | rs104895157 |
HLI | rs104895157 |
Exac | rs104895157 |
Gnomad | rs104895157 |
Varsome | rs104895157 |
LitVar | rs104895157 |
Map | rs104895157 |
PheGenI | rs104895157 |
Biobank | rs104895157 |
1000 genomes | rs104895157 |
hgdp | rs104895157 |
ensembl | rs104895157 |
geneview | rs104895157 |
scholar | rs104895157 |
rs104895157 | |
pharmgkb | rs104895157 |
gwascentral | rs104895157 |
openSNP | rs104895157 |
23andMe | rs104895157 |
SNPshot | rs104895157 |
SNPdbe | rs104895157 |
MSV3d | rs104895157 |
GWAS Ctlg | rs104895157 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104895157(T;T) |
Alt | rs104895157(T;T) |
Reference | Rs104895157(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.3299675G>A |
CLNSRC | ClinVar LabCorp Unité médicale des maladies autoinflammatoires |
CLNACC | RCV000030169.2, RCV000366739.1, |