rs387907570
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 rs387907570(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 3243427 |
Gene | MEFV |
is a | snp |
is | mentioned by |
dbSNP | rs387907570 |
dbSNP (classic) | rs387907570 |
ClinGen | rs387907570 |
ebi | rs387907570 |
HLI | rs387907570 |
Exac | rs387907570 |
Gnomad | rs387907570 |
Varsome | rs387907570 |
LitVar | rs387907570 |
Map | rs387907570 |
PheGenI | rs387907570 |
Biobank | rs387907570 |
1000 genomes | rs387907570 |
hgdp | rs387907570 |
ensembl | rs387907570 |
geneview | rs387907570 |
scholar | rs387907570 |
rs387907570 | |
pharmgkb | rs387907570 |
gwascentral | rs387907570 |
openSNP | rs387907570 |
23andMe | rs387907570 |
SNPshot | rs387907570 |
SNPdbe | rs387907570 |
MSV3d | rs387907570 |
GWAS Ctlg | rs387907570 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs387907570(A;A) |
Alt | rs387907570(A;A) |
Reference | Rs387907570(G;G) |
Significance | Pathogenic |
Disease | Familial Mediterranean fever not provided |
Variation | info |
Gene | MEFV |
CLNDBN | Familial Mediterranean fever not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.3293427C>T |
CLNSRC | |
CLNACC | RCV000049558.1, RCV000216370.1, |