rs199474659
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199474659(C;T) |
Make rs199474659(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 3256 |
is a | snp |
is | mentioned by |
dbSNP | rs199474659 |
dbSNP (classic) | rs199474659 |
ClinGen | rs199474659 |
ebi | rs199474659 |
HLI | rs199474659 |
Exac | rs199474659 |
Gnomad | rs199474659 |
Varsome | rs199474659 |
LitVar | rs199474659 |
Map | rs199474659 |
PheGenI | rs199474659 |
Biobank | rs199474659 |
1000 genomes | rs199474659 |
hgdp | rs199474659 |
ensembl | rs199474659 |
geneview | rs199474659 |
scholar | rs199474659 |
rs199474659 | |
pharmgkb | rs199474659 |
gwascentral | rs199474659 |
openSNP | rs199474659 |
23andMe | rs199474659 |
SNPshot | rs199474659 |
SNPdbe | rs199474659 |
MSV3d | rs199474659 |
GWAS Ctlg | rs199474659 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199474659(T;T) |
Alt | rs199474659(T;T) |
Reference | Rs199474659(C;C) |
Significance | Pathogenic |
Disease | Myoclonus with epilepsy with ragged red fibers Diabetes mellitus |
Variation | info |
Gene | |
CLNDBN | Myoclonus with epilepsy with ragged red fibers Diabetes mellitus, noninsulin-dependent, maternally transmitted |
Reversed | 0 |
HGVS | NC_012920.1:m.3256C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010213.2, RCV000010214.2, |