rs797045898
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCTAG;CCTAG) | 0 | common in clinvar |
Make rs797045898(CCTAG;TGA) |
Make rs797045898(TGA;TGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 77283874 |
Gene | POMT2 |
is a | snp |
is | mentioned by |
dbSNP | rs797045898 |
dbSNP (classic) | rs797045898 |
ClinGen | rs797045898 |
ebi | rs797045898 |
HLI | rs797045898 |
Exac | rs797045898 |
Gnomad | rs797045898 |
Varsome | rs797045898 |
LitVar | rs797045898 |
Map | rs797045898 |
PheGenI | rs797045898 |
Biobank | rs797045898 |
1000 genomes | rs797045898 |
hgdp | rs797045898 |
ensembl | rs797045898 |
geneview | rs797045898 |
scholar | rs797045898 |
rs797045898 | |
pharmgkb | rs797045898 |
gwascentral | rs797045898 |
openSNP | rs797045898 |
23andMe | rs797045898 |
SNPshot | rs797045898 |
SNPdbe | rs797045898 |
MSV3d | rs797045898 |
GWAS Ctlg | rs797045898 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045898(TGA;TGA) |
Alt | rs797045898(TGA;TGA) |
Reference | Rs797045898(CCTAG;CCTAG) |
Significance | Pathogenic |
Disease | Muscular dystrophy |
Variation | info |
Gene | POMT2 |
CLNDBN | Muscular dystrophy |
Reversed | 1 |
HGVS | NC_000014.8:g.77750217_77750221delCTAGGinsTCA |
CLNSRC | |
CLNACC | RCV000192561.1, |