rs786205117
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786205117(-;T) |
Make rs786205117(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 22 |
Position | 50581542 |
Gene | CHKB, CHKB-AS1, CHKB-CPT1B |
is a | snp |
is | mentioned by |
dbSNP | rs786205117 |
dbSNP (classic) | rs786205117 |
ClinGen | rs786205117 |
ebi | rs786205117 |
HLI | rs786205117 |
Exac | rs786205117 |
Gnomad | rs786205117 |
Varsome | rs786205117 |
LitVar | rs786205117 |
Map | rs786205117 |
PheGenI | rs786205117 |
Biobank | rs786205117 |
1000 genomes | rs786205117 |
hgdp | rs786205117 |
ensembl | rs786205117 |
geneview | rs786205117 |
scholar | rs786205117 |
rs786205117 | |
pharmgkb | rs786205117 |
gwascentral | rs786205117 |
openSNP | rs786205117 |
23andMe | rs786205117 |
SNPshot | rs786205117 |
SNPdbe | rs786205117 |
MSV3d | rs786205117 |
GWAS Ctlg | rs786205117 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205117(T;T) |
Alt | rs786205117(T;T) |
Reference | Rs786205117(-;-) |
Significance | Pathogenic |
Disease | Muscular dystrophy |
Variation | info |
Gene | CHKB-AS1 CHKB-CPT1B CHKB |
CLNDBN | Muscular dystrophy, congenital, megaconial type |
Reversed | 1 |
HGVS | NC_000022.10:g.51019972dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023944.3, |