rs121908079
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TAT;TAT) | 0 | common in clinvar |
Make rs121908079(-;-) |
Make rs121908079(-;TAT) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 68211292 |
Gene | CLN6 |
is a | snp |
is | mentioned by |
dbSNP | rs121908079 |
dbSNP (classic) | rs121908079 |
ClinGen | rs121908079 |
ebi | rs121908079 |
HLI | rs121908079 |
Exac | rs121908079 |
Gnomad | rs121908079 |
Varsome | rs121908079 |
LitVar | rs121908079 |
Map | rs121908079 |
PheGenI | rs121908079 |
Biobank | rs121908079 |
1000 genomes | rs121908079 |
hgdp | rs121908079 |
ensembl | rs121908079 |
geneview | rs121908079 |
scholar | rs121908079 |
rs121908079 | |
pharmgkb | rs121908079 |
gwascentral | rs121908079 |
openSNP | rs121908079 |
23andMe | rs121908079 |
SNPshot | rs121908079 |
SNPdbe | rs121908079 |
MSV3d | rs121908079 |
GWAS Ctlg | rs121908079 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908079(-;-) |
Alt | rs121908079(-;-) |
Reference | Rs121908079(TAT;TAT) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 6 |
Variation | info |
Gene | CLN6 |
CLNDBN | Ceroid lipofuscinosis neuronal 6 |
Reversed | 1 |
HGVS | NC_000015.9:g.68503630_68503632delATA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004293.3, |