rs794729220
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GTCGCCTGG;GTCGCCTGG) | 0 | common in clinvar |
Make rs794729220(-;-) |
Make rs794729220(-;GTCGCCTGG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 68208239 |
Gene | CLN6 |
is a | snp |
is | mentioned by |
dbSNP | rs794729220 |
dbSNP (classic) | rs794729220 |
ClinGen | rs794729220 |
ebi | rs794729220 |
HLI | rs794729220 |
Exac | rs794729220 |
Gnomad | rs794729220 |
Varsome | rs794729220 |
LitVar | rs794729220 |
Map | rs794729220 |
PheGenI | rs794729220 |
Biobank | rs794729220 |
1000 genomes | rs794729220 |
hgdp | rs794729220 |
ensembl | rs794729220 |
geneview | rs794729220 |
scholar | rs794729220 |
rs794729220 | |
pharmgkb | rs794729220 |
gwascentral | rs794729220 |
openSNP | rs794729220 |
23andMe | rs794729220 |
SNPshot | rs794729220 |
SNPdbe | rs794729220 |
MSV3d | rs794729220 |
GWAS Ctlg | rs794729220 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729220(-;-) |
Alt | rs794729220(-;-) |
Reference | Rs794729220(GTCGCCTGG;GTCGCCTGG) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 6 |
Variation | info |
Gene | CLN6 |
CLNDBN | Ceroid lipofuscinosis neuronal 6 |
Reversed | 1 |
HGVS | NC_000015.9:g.68500577_68500585delCCAGGCGAC |
CLNSRC | |
CLNACC | RCV000184041.1, |