rs797045911
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs797045911(-;-) |
Make rs797045911(-;AA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 87520237 |
Gene | RARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs797045911 |
dbSNP (classic) | rs797045911 |
ClinGen | rs797045911 |
ebi | rs797045911 |
HLI | rs797045911 |
Exac | rs797045911 |
Gnomad | rs797045911 |
Varsome | rs797045911 |
LitVar | rs797045911 |
Map | rs797045911 |
PheGenI | rs797045911 |
Biobank | rs797045911 |
1000 genomes | rs797045911 |
hgdp | rs797045911 |
ensembl | rs797045911 |
geneview | rs797045911 |
scholar | rs797045911 |
rs797045911 | |
pharmgkb | rs797045911 |
gwascentral | rs797045911 |
openSNP | rs797045911 |
23andMe | rs797045911 |
SNPshot | rs797045911 |
SNPdbe | rs797045911 |
MSV3d | rs797045911 |
GWAS Ctlg | rs797045911 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045911(-;-) |
Alt | rs797045911(-;-) |
Reference | Rs797045911(AA;AA) |
Significance | Probable-Pathogenic |
Disease | Pontocerebellar hypoplasia type 6 |
Variation | info |
Gene | RARS2 |
CLNDBN | Pontocerebellar hypoplasia type 6 |
Reversed | 1 |
HGVS | NC_000006.11:g.88229955_88229956delTT |
CLNSRC | |
CLNACC | RCV000194218.1, |