rs797046046
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797046046(G;T) |
Make rs797046046(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 1841527 |
Gene | LOC107984299, TNNI2 |
is a | snp |
is | mentioned by |
dbSNP | rs797046046 |
dbSNP (classic) | rs797046046 |
ClinGen | rs797046046 |
ebi | rs797046046 |
HLI | rs797046046 |
Exac | rs797046046 |
Gnomad | rs797046046 |
Varsome | rs797046046 |
LitVar | rs797046046 |
Map | rs797046046 |
PheGenI | rs797046046 |
Biobank | rs797046046 |
1000 genomes | rs797046046 |
hgdp | rs797046046 |
ensembl | rs797046046 |
geneview | rs797046046 |
scholar | rs797046046 |
rs797046046 | |
pharmgkb | rs797046046 |
gwascentral | rs797046046 |
openSNP | rs797046046 |
23andMe | rs797046046 |
SNPshot | rs797046046 |
SNPdbe | rs797046046 |
MSV3d | rs797046046 |
GWAS Ctlg | rs797046046 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046046(T;T) |
Alt | rs797046046(T;T) |
Reference | Rs797046046(G;G) |
Significance | Probable-Pathogenic |
Disease | Distal arthrogryposis type 2B |
Variation | info |
Gene | TNNI2 |
CLNDBN | Distal arthrogryposis type 2B |
Reversed | 0 |
HGVS | NC_000011.9:g.1862757G>T |
CLNSRC | |
CLNACC | RCV000193314.1, |