rs797044841
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCTGGCTTTCGT;CCTGGCTTTCGT) | 0 | common in clinvar |
Make rs797044841(-;-) |
Make rs797044841(-;GCTTTCGTCCTG) |
Make rs797044841(GCTTTCGTCCTG;GCTTTCGTCCTG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 70175310 |
Gene | KCNJ2 |
is a | snp |
is | mentioned by |
dbSNP | rs797044841 |
dbSNP (classic) | rs797044841 |
ClinGen | rs797044841 |
ebi | rs797044841 |
HLI | rs797044841 |
Exac | rs797044841 |
Gnomad | rs797044841 |
Varsome | rs797044841 |
LitVar | rs797044841 |
Map | rs797044841 |
PheGenI | rs797044841 |
Biobank | rs797044841 |
1000 genomes | rs797044841 |
hgdp | rs797044841 |
ensembl | rs797044841 |
geneview | rs797044841 |
scholar | rs797044841 |
rs797044841 | |
pharmgkb | rs797044841 |
gwascentral | rs797044841 |
openSNP | rs797044841 |
23andMe | rs797044841 |
SNPshot | rs797044841 |
SNPdbe | rs797044841 |
MSV3d | rs797044841 |
GWAS Ctlg | rs797044841 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044841(-;-) |
Alt | rs797044841(-;-) |
Reference | Rs797044841(CCTGGCTTTCGT;CCTGGCTTTCGT) |
Significance | Pathogenic |
Disease | Andersen Tawil syndrome |
Variation | info |
Gene | KCNJ2 |
CLNDBN | Andersen Tawil syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.68171451_68171462delGCTTTCGTCCTG |
CLNSRC | |
CLNACC | RCV000192428.1, |