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rs387907068

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907068(A;A)
Make rs387907068(A;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position50582666
GeneCHKB, CHKB-CPT1B, ERO1LB
is asnp
is mentioned by
dbSNPrs387907068
ebirs387907068
HLIrs387907068
Exacrs387907068
Varsomers387907068
Maprs387907068
PheGenIrs387907068
hapmaprs387907068
1000 genomesrs387907068
hgdprs387907068
ensemblrs387907068
gopubmedrs387907068
geneviewrs387907068
scholarrs387907068
googlers387907068
pharmgkbrs387907068
gwascentralrs387907068
openSNPrs387907068
23andMers387907068
23andMe allrs387907068
SNP Nexus

SNPshotrs387907068
SNPdbers387907068
MSV3drs387907068
GWAS Ctlgrs387907068
Max Magnitude0
ClinVar
Risk rs387907068(A;A)
Alt rs387907068(A;A)
Reference rs387907068(C;C)
Significance Pathogenic
Disease Muscular dystrophy
Variation info
Gene CHKB-AS1 CHKB-CPT1B CHKB
CLNDBN Muscular dystrophy, congenital, megaconial type
Reversed 1
HGVS NC_000022.10:g.51021095G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023943.4,