rs774543080
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs774543080(-;-) |
Make rs774543080(-;AG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 68211765 |
Gene | CLN6 |
is a | snp |
is | mentioned by |
dbSNP | rs774543080 |
dbSNP (classic) | rs774543080 |
ClinGen | rs774543080 |
ebi | rs774543080 |
HLI | rs774543080 |
Exac | rs774543080 |
Gnomad | rs774543080 |
Varsome | rs774543080 |
LitVar | rs774543080 |
Map | rs774543080 |
PheGenI | rs774543080 |
Biobank | rs774543080 |
1000 genomes | rs774543080 |
hgdp | rs774543080 |
ensembl | rs774543080 |
geneview | rs774543080 |
scholar | rs774543080 |
rs774543080 | |
pharmgkb | rs774543080 |
gwascentral | rs774543080 |
openSNP | rs774543080 |
23andMe | rs774543080 |
SNPshot | rs774543080 |
SNPdbe | rs774543080 |
MSV3d | rs774543080 |
GWAS Ctlg | rs774543080 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs774543080(-;-) |
Alt | rs774543080(-;-) |
Reference | Rs774543080(AG;AG) |
Significance | Pathogenic |
Disease | Ceroid lipofuscinosis neuronal 6 not provided Neuronal ceroid lipofuscinosis |
Variation | info |
Gene | CLN6 |
CLNDBN | Ceroid lipofuscinosis neuronal 6 not provided Neuronal ceroid lipofuscinosis |
Reversed | 0 |
HGVS | NC_000015.9:g.68504103_68504104delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004297.4, RCV000187113.2, RCV000465745.1, |