rs199474801
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
(GAA;GAA) | 0 | common in clinvar |
Make rs199474801(-;-) |
Make rs199474801(-;AGA) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 1841529 |
Gene | LOC107984299, TNNI2 |
is a | snp |
is | mentioned by |
dbSNP | rs199474801 |
dbSNP (classic) | rs199474801 |
ClinGen | rs199474801 |
ebi | rs199474801 |
HLI | rs199474801 |
Exac | rs199474801 |
Gnomad | rs199474801 |
Varsome | rs199474801 |
LitVar | rs199474801 |
Map | rs199474801 |
PheGenI | rs199474801 |
Biobank | rs199474801 |
1000 genomes | rs199474801 |
hgdp | rs199474801 |
ensembl | rs199474801 |
geneview | rs199474801 |
scholar | rs199474801 |
rs199474801 | |
pharmgkb | rs199474801 |
gwascentral | rs199474801 |
openSNP | rs199474801 |
23andMe | rs199474801 |
SNPshot | rs199474801 |
SNPdbe | rs199474801 |
MSV3d | rs199474801 |
GWAS Ctlg | rs199474801 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199474801(-;-) |
Alt | rs199474801(-;-) |
Reference | Rs199474801(GAA;GAA) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | TNNI2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.1862759_1862761delAGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128668.1, |
[PMID 16924011] A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.