rs750764003
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs750764003(A;G) |
Make rs750764003(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 50580198 |
Gene | CHKB, CHKB-CPT1B, CPT1B |
is a | snp |
is | mentioned by |
dbSNP | rs750764003 |
dbSNP (classic) | rs750764003 |
ClinGen | rs750764003 |
ebi | rs750764003 |
HLI | rs750764003 |
Exac | rs750764003 |
Gnomad | rs750764003 |
Varsome | rs750764003 |
LitVar | rs750764003 |
Map | rs750764003 |
PheGenI | rs750764003 |
Biobank | rs750764003 |
1000 genomes | rs750764003 |
hgdp | rs750764003 |
ensembl | rs750764003 |
geneview | rs750764003 |
scholar | rs750764003 |
rs750764003 | |
pharmgkb | rs750764003 |
gwascentral | rs750764003 |
openSNP | rs750764003 |
23andMe | rs750764003 |
SNPshot | rs750764003 |
SNPdbe | rs750764003 |
MSV3d | rs750764003 |
GWAS Ctlg | rs750764003 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750764003(G;G) rs750764003(T;T) |
Alt | rs750764003(G;G) rs750764003(T;T) |
Reference | Rs750764003(A;A) |
Significance | Pathogenic |
Disease | Muscular dystrophy |
Variation | info |
Gene | CHKB-CPT1B CPT1B CHKB |
CLNDBN | Muscular dystrophy, congenital, megaconial type |
Reversed | 0 |
HGVS | NC_000022.10:g.51018627A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023942.3, |