rs876660996
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a familial mediterranean fever mutation |
(G;G) | 0 | common in clinvar |
Make rs876660996(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 3244253 |
Gene | MEFV |
is a | snp |
is | mentioned by |
dbSNP | rs876660996 |
dbSNP (classic) | rs876660996 |
ClinGen | rs876660996 |
ebi | rs876660996 |
HLI | rs876660996 |
Exac | rs876660996 |
Gnomad | rs876660996 |
Varsome | rs876660996 |
LitVar | rs876660996 |
Map | rs876660996 |
PheGenI | rs876660996 |
Biobank | rs876660996 |
1000 genomes | rs876660996 |
hgdp | rs876660996 |
ensembl | rs876660996 |
geneview | rs876660996 |
scholar | rs876660996 |
rs876660996 | |
pharmgkb | rs876660996 |
gwascentral | rs876660996 |
openSNP | rs876660996 |
23andMe | rs876660996 |
SNPshot | rs876660996 |
SNPdbe | rs876660996 |
MSV3d | rs876660996 |
GWAS Ctlg | rs876660996 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs876660996(A;A) |
Alt | rs876660996(A;A) |
Reference | Rs876660996(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | MEFV |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.3294253C>T |
CLNSRC | |
CLNACC | RCV000223214.1, |