rs786205118
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786205118(A;A) |
Make rs786205118(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 22 |
Position | 50580564 |
Gene | CHKB, CHKB-CPT1B, CPT1B |
is a | snp |
is | mentioned by |
dbSNP | rs786205118 |
dbSNP (classic) | rs786205118 |
ClinGen | rs786205118 |
ebi | rs786205118 |
HLI | rs786205118 |
Exac | rs786205118 |
Gnomad | rs786205118 |
Varsome | rs786205118 |
LitVar | rs786205118 |
Map | rs786205118 |
PheGenI | rs786205118 |
Biobank | rs786205118 |
1000 genomes | rs786205118 |
hgdp | rs786205118 |
ensembl | rs786205118 |
geneview | rs786205118 |
scholar | rs786205118 |
rs786205118 | |
pharmgkb | rs786205118 |
gwascentral | rs786205118 |
openSNP | rs786205118 |
23andMe | rs786205118 |
SNPshot | rs786205118 |
SNPdbe | rs786205118 |
MSV3d | rs786205118 |
GWAS Ctlg | rs786205118 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205118(A;A) |
Alt | rs786205118(A;A) |
Reference | Rs786205118(G;G) |
Significance | Pathogenic |
Disease | Muscular dystrophy |
Variation | info |
Gene | CHKB-CPT1B CHKB CPT1B |
CLNDBN | Muscular dystrophy, congenital, megaconial type |
Reversed | 1 |
HGVS | NC_000022.10:g.51018993C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023946.3, |