rs121908080
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ATC;ATC) | 0 | common in complete genomics |
(I;I) | 0 | common genotype |
(TCA;TCA) | 0 | common in clinvar |
Make rs121908080(-;-) |
Make rs121908080(-;ATC) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 68211699 |
Gene | CLN6 |
is a | snp |
is | mentioned by |
dbSNP | rs121908080 |
dbSNP (classic) | rs121908080 |
ClinGen | rs121908080 |
ebi | rs121908080 |
HLI | rs121908080 |
Exac | rs121908080 |
Gnomad | rs121908080 |
Varsome | rs121908080 |
LitVar | rs121908080 |
Map | rs121908080 |
PheGenI | rs121908080 |
Biobank | rs121908080 |
1000 genomes | rs121908080 |
hgdp | rs121908080 |
ensembl | rs121908080 |
geneview | rs121908080 |
scholar | rs121908080 |
rs121908080 | |
pharmgkb | rs121908080 |
gwascentral | rs121908080 |
openSNP | rs121908080 |
23andMe | rs121908080 |
SNPshot | rs121908080 |
SNPdbe | rs121908080 |
MSV3d | rs121908080 |
GWAS Ctlg | rs121908080 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908080(-;-) |
Alt | rs121908080(-;-) |
Reference | Rs121908080(TCA;TCA) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 6 |
Variation | info |
Gene | CLN6 |
CLNDBN | Ceroid lipofuscinosis neuronal 6 |
Reversed | 1 |
HGVS | NC_000015.9:g.68504037_68504039delGAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004298.5, RCV000184041.1, |