rs546989392
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs546989392(C;T) |
Make rs546989392(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 76996010 |
Gene | CLN5, FBXL3 |
is a | snp |
is | mentioned by |
dbSNP | rs546989392 |
dbSNP (classic) | rs546989392 |
ClinGen | rs546989392 |
ebi | rs546989392 |
HLI | rs546989392 |
Exac | rs546989392 |
Gnomad | rs546989392 |
Varsome | rs546989392 |
LitVar | rs546989392 |
Map | rs546989392 |
PheGenI | rs546989392 |
Biobank | rs546989392 |
1000 genomes | rs546989392 |
hgdp | rs546989392 |
ensembl | rs546989392 |
geneview | rs546989392 |
scholar | rs546989392 |
rs546989392 | |
pharmgkb | rs546989392 |
gwascentral | rs546989392 |
openSNP | rs546989392 |
23andMe | rs546989392 |
SNPshot | rs546989392 |
SNPdbe | rs546989392 |
MSV3d | rs546989392 |
GWAS Ctlg | rs546989392 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs546989392(T;T) |
Alt | rs546989392(T;T) |
Reference | Rs546989392(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CLN5 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.77570145C>T |
CLNSRC | |
CLNACC | RCV000187069.1, |