rs797046006
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs797046006(A;G) |
Make rs797046006(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 66715958 |
Gene | SPTBN2 |
is a | snp |
is | mentioned by |
dbSNP | rs797046006 |
dbSNP (classic) | rs797046006 |
ClinGen | rs797046006 |
ebi | rs797046006 |
HLI | rs797046006 |
Exac | rs797046006 |
Gnomad | rs797046006 |
Varsome | rs797046006 |
LitVar | rs797046006 |
Map | rs797046006 |
PheGenI | rs797046006 |
Biobank | rs797046006 |
1000 genomes | rs797046006 |
hgdp | rs797046006 |
ensembl | rs797046006 |
geneview | rs797046006 |
scholar | rs797046006 |
rs797046006 | |
pharmgkb | rs797046006 |
gwascentral | rs797046006 |
openSNP | rs797046006 |
23andMe | rs797046006 |
SNPshot | rs797046006 |
SNPdbe | rs797046006 |
MSV3d | rs797046006 |
GWAS Ctlg | rs797046006 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046006(G;G) |
Alt | rs797046006(G;G) |
Reference | Rs797046006(A;A) |
Significance | Probable-Pathogenic |
Disease | Ataxia not provided |
Variation | info |
Gene | SPTBN2 |
CLNDBN | Ataxia not provided |
Reversed | 1 |
HGVS | NC_000011.9:g.66483429T>C |
CLNSRC | |
CLNACC | RCV000192407.1, RCV000494630.1, |