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rs786205117

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786205117(-;-)
Make rs786205117(-;T)
Make rs786205117(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position50581542
GeneCHKB, CHKB-AS1, CHKB-CPT1B
is asnp
is mentioned by
dbSNPrs786205117
ebirs786205117
HLIrs786205117
Exacrs786205117
Varsomers786205117
Maprs786205117
PheGenIrs786205117
hapmaprs786205117
1000 genomesrs786205117
hgdprs786205117
ensemblrs786205117
gopubmedrs786205117
geneviewrs786205117
scholarrs786205117
googlers786205117
pharmgkbrs786205117
gwascentralrs786205117
openSNPrs786205117
23andMers786205117
23andMe allrs786205117
SNP Nexus

SNPshotrs786205117
SNPdbers786205117
MSV3drs786205117
GWAS Ctlgrs786205117
Max Magnitude0
ClinVar
Risk rs786205117(T;T)
Alt rs786205117(T;T)
Reference rs786205117(;)
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.51019972dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023944.3,