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rs387907069

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907069(C;T)
Make rs387907069(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50579979
GeneCHKB, CHKB-CPT1B, CPT1B
is asnp
is mentioned by
dbSNPrs387907069
ebirs387907069
HLIrs387907069
Exacrs387907069
Varsomers387907069
Maprs387907069
PheGenIrs387907069
hapmaprs387907069
1000 genomesrs387907069
hgdprs387907069
ensemblrs387907069
gopubmedrs387907069
geneviewrs387907069
scholarrs387907069
googlers387907069
pharmgkbrs387907069
gwascentralrs387907069
openSNPrs387907069
23andMers387907069
23andMe allrs387907069
SNP Nexus

SNPshotrs387907069
SNPdbers387907069
MSV3drs387907069
GWAS Ctlgrs387907069
Max Magnitude0
ClinVar
Risk rs387907069(T;T)
Alt rs387907069(T;T)
Reference rs387907069(C;C)
Significance Pathogenic
Disease Muscular dystrophy
Variation info
Gene CHKB-CPT1B CPT1B CHKB
CLNDBN Muscular dystrophy, congenital, megaconial type
Reversed 1
HGVS NC_000022.10:g.51018408G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023945.3,