rs397515352
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397515352(-;C) |
Make rs397515352(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 68211844 |
Gene | CLN6 |
is a | snp |
is | mentioned by |
dbSNP | rs397515352 |
dbSNP (classic) | rs397515352 |
ClinGen | rs397515352 |
ebi | rs397515352 |
HLI | rs397515352 |
Exac | rs397515352 |
Gnomad | rs397515352 |
Varsome | rs397515352 |
LitVar | rs397515352 |
Map | rs397515352 |
PheGenI | rs397515352 |
Biobank | rs397515352 |
1000 genomes | rs397515352 |
hgdp | rs397515352 |
ensembl | rs397515352 |
geneview | rs397515352 |
scholar | rs397515352 |
rs397515352 | |
pharmgkb | rs397515352 |
gwascentral | rs397515352 |
openSNP | rs397515352 |
23andMe | rs397515352 |
SNPshot | rs397515352 |
SNPdbe | rs397515352 |
MSV3d | rs397515352 |
GWAS Ctlg | rs397515352 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515352(C;C) |
Alt | rs397515352(C;C) |
Reference | Rs397515352(-;-) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 6 |
Variation | info |
Gene | CLN6 |
CLNDBN | Ceroid lipofuscinosis neuronal 6 |
Reversed | 1 |
HGVS | NC_000015.9:g.68504183dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004296.4, |