rs755660222
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs755660222(-;-) |
Make rs755660222(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 77301228 |
Gene | POMT2 |
is a | snp |
is | mentioned by |
dbSNP | rs755660222 |
dbSNP (classic) | rs755660222 |
ClinGen | rs755660222 |
ebi | rs755660222 |
HLI | rs755660222 |
Exac | rs755660222 |
Gnomad | rs755660222 |
Varsome | rs755660222 |
LitVar | rs755660222 |
Map | rs755660222 |
PheGenI | rs755660222 |
Biobank | rs755660222 |
1000 genomes | rs755660222 |
hgdp | rs755660222 |
ensembl | rs755660222 |
geneview | rs755660222 |
scholar | rs755660222 |
rs755660222 | |
pharmgkb | rs755660222 |
gwascentral | rs755660222 |
openSNP | rs755660222 |
23andMe | rs755660222 |
SNPshot | rs755660222 |
SNPdbe | rs755660222 |
MSV3d | rs755660222 |
GWAS Ctlg | rs755660222 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755660222(-;-) |
Alt | rs755660222(-;-) |
Reference | Rs755660222(C;C) |
Significance | Pathogenic |
Disease | Muscular dystrophy |
Variation | info |
Gene | POMT2 |
CLNDBN | Muscular dystrophy |
Reversed | 0 |
HGVS | NC_000014.8:g.77767571delC |
CLNSRC | |
CLNACC | RCV000194245.1, |