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rs786205118

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205118(A;A)
Make rs786205118(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position50580564
GeneCHKB, CHKB-CPT1B, CPT1B
is asnp
is mentioned by
dbSNPrs786205118
ebirs786205118
HLIrs786205118
Exacrs786205118
Varsomers786205118
Maprs786205118
PheGenIrs786205118
hapmaprs786205118
1000 genomesrs786205118
hgdprs786205118
ensemblrs786205118
gopubmedrs786205118
geneviewrs786205118
scholarrs786205118
googlers786205118
pharmgkbrs786205118
gwascentralrs786205118
openSNPrs786205118
23andMers786205118
23andMe allrs786205118
SNP Nexus

SNPshotrs786205118
SNPdbers786205118
MSV3drs786205118
GWAS Ctlgrs786205118
Max Magnitude0
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,