rs104895091
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TGA) | 3 | Carrier of a familial mediterranean fever mutation |
(TGA;TGA) | 0 | common in clinvar |
Make rs104895091(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 3243404 |
Gene | MEFV |
is a | snp |
is | mentioned by |
dbSNP | rs104895091 |
dbSNP (classic) | rs104895091 |
ClinGen | rs104895091 |
ebi | rs104895091 |
HLI | rs104895091 |
Exac | rs104895091 |
Gnomad | rs104895091 |
Varsome | rs104895091 |
LitVar | rs104895091 |
Map | rs104895091 |
PheGenI | rs104895091 |
Biobank | rs104895091 |
1000 genomes | rs104895091 |
hgdp | rs104895091 |
ensembl | rs104895091 |
geneview | rs104895091 |
scholar | rs104895091 |
rs104895091 | |
pharmgkb | rs104895091 |
gwascentral | rs104895091 |
openSNP | rs104895091 |
23andMe | rs104895091 |
SNPshot | rs104895091 |
SNPdbe | rs104895091 |
MSV3d | rs104895091 |
GWAS Ctlg | rs104895091 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs104895091(-;-) |
Alt | rs104895091(-;-) |
Reference | Rs104895091(TGA;TGA) |
Significance | Pathogenic |
Disease | Familial mediterranean fever Familial Mediterranean fever |
Variation | info |
Gene | MEFV |
CLNDBN | Familial mediterranean fever, autosomal dominant Familial Mediterranean fever |
Reversed | 1 |
HGVS | NC_000016.9:g.3293404_3293406delTCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002665.3, RCV000083740.1, |