rs763485258
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs763485258(A;A) |
Make rs763485258(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 78708470 |
Gene | TENM4 |
is a | snp |
is | mentioned by |
dbSNP | rs763485258 |
dbSNP (classic) | rs763485258 |
ClinGen | rs763485258 |
ebi | rs763485258 |
HLI | rs763485258 |
Exac | rs763485258 |
Gnomad | rs763485258 |
Varsome | rs763485258 |
LitVar | rs763485258 |
Map | rs763485258 |
PheGenI | rs763485258 |
Biobank | rs763485258 |
1000 genomes | rs763485258 |
hgdp | rs763485258 |
ensembl | rs763485258 |
geneview | rs763485258 |
scholar | rs763485258 |
rs763485258 | |
pharmgkb | rs763485258 |
gwascentral | rs763485258 |
openSNP | rs763485258 |
23andMe | rs763485258 |
SNPshot | rs763485258 |
SNPdbe | rs763485258 |
MSV3d | rs763485258 |
GWAS Ctlg | rs763485258 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763485258(A;A) rs763485258(T;T) |
Alt | rs763485258(A;A) rs763485258(T;T) |
Reference | Rs763485258(G;G) |
Significance | Pathogenic |
Disease | Tremor |
Variation | info |
Gene | TENM4 |
CLNDBN | Tremor, hereditary essential, 5 |
Reversed | 0 |
HGVS | NC_000011.9:g.78419515G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203504.1, |