rs312262707
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TAGAGTGTGGGCCTCAGG;TAGAGTGTGGGCCTCAGG) | 0 | common in clinvar |
Make rs312262707(-;-) |
Make rs312262707(-;GTAGAGTGTGGGCCTCAG) |
Make rs312262707(GTAGAGTGTGGGCCTCAG;GTAGAGTGTGGGCCTCAG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 43774640 |
Gene | CSTB |
is a | snp |
is | mentioned by |
dbSNP | rs312262707 |
dbSNP (classic) | rs312262707 |
ClinGen | rs312262707 |
ebi | rs312262707 |
HLI | rs312262707 |
Exac | rs312262707 |
Gnomad | rs312262707 |
Varsome | rs312262707 |
LitVar | rs312262707 |
Map | rs312262707 |
PheGenI | rs312262707 |
Biobank | rs312262707 |
1000 genomes | rs312262707 |
hgdp | rs312262707 |
ensembl | rs312262707 |
geneview | rs312262707 |
scholar | rs312262707 |
rs312262707 | |
pharmgkb | rs312262707 |
gwascentral | rs312262707 |
openSNP | rs312262707 |
23andMe | rs312262707 |
SNPshot | rs312262707 |
SNPdbe | rs312262707 |
MSV3d | rs312262707 |
GWAS Ctlg | rs312262707 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs312262707(-;-) |
Alt | rs312262707(-;-) |
Reference | Rs312262707(TAGAGTGTGGGCCTCAGG;TAGAGTGTGGGCCTCAGG) |
Significance | Pathogenic |
Disease | Unverricht-Lundborg syndrome |
Variation | info |
Gene | CSTB |
CLNDBN | Unverricht-Lundborg syndrome |
Reversed | 1 |
HGVS | NC_000021.8:g.45194521_45194538del18 |
CLNSRC | |
CLNACC | RCV000202562.1, |