rs387907069

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs387907069(C;T)

Make rs387907069(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50579979

Gene	CHKB, CHKB-CPT1B, CPT1B

is a	snp
is	mentioned by
dbSNP	rs387907069
dbSNP (classic)	rs387907069
ClinGen	rs387907069
ebi	rs387907069
HLI	rs387907069
Exac	rs387907069
Gnomad	rs387907069
Varsome	rs387907069
LitVar	rs387907069
Map	rs387907069
PheGenI	rs387907069
Biobank	rs387907069
1000 genomes	rs387907069
hgdp	rs387907069
ensembl	rs387907069
geneview	rs387907069
scholar	rs387907069
google	rs387907069
pharmgkb	rs387907069
gwascentral	rs387907069
openSNP	rs387907069
23andMe	rs387907069
SNPshot	rs387907069
SNPdbe	rs387907069
MSV3d	rs387907069
GWAS Ctlg	rs387907069

Max Magnitude

0

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,