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rs750764003

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs750764003(A;G)
Make rs750764003(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position50580198
GeneCHKB, CHKB-CPT1B, CPT1B
is asnp
is mentioned by
dbSNPrs750764003
ebirs750764003
HLIrs750764003
Exacrs750764003
Varsomers750764003
Maprs750764003
PheGenIrs750764003
hapmaprs750764003
1000 genomesrs750764003
hgdprs750764003
ensemblrs750764003
gopubmedrs750764003
geneviewrs750764003
scholarrs750764003
googlers750764003
pharmgkbrs750764003
gwascentralrs750764003
openSNPrs750764003
23andMers750764003
23andMe allrs750764003
SNP Nexus

SNPshotrs750764003
SNPdbers750764003
MSV3drs750764003
GWAS Ctlgrs750764003
Max Magnitude0
ClinVar
Risk rs750764003(G,T;G,T)
Alt rs750764003(G,T;G,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,