rs387907068

Orientation

minus

Stabilized

minus

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

Make rs387907068(A;A)

Make rs387907068(A;C)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50582666

Gene	CHKB, CHKB-AS1, CHKB-CPT1B

is a	snp
is	mentioned by
dbSNP	rs387907068
dbSNP (classic)	rs387907068
ClinGen	rs387907068
ebi	rs387907068
HLI	rs387907068
Exac	rs387907068
Gnomad	rs387907068
Varsome	rs387907068
LitVar	rs387907068
Map	rs387907068
PheGenI	rs387907068
Biobank	rs387907068
1000 genomes	rs387907068
hgdp	rs387907068
ensembl	rs387907068
geneview	rs387907068
scholar	rs387907068
google	rs387907068
pharmgkb	rs387907068
gwascentral	rs387907068
openSNP	rs387907068
23andMe	rs387907068
SNPshot	rs387907068
SNPdbe	rs387907068
MSV3d	rs387907068
GWAS Ctlg	rs387907068

Max Magnitude

0

ClinVar
Risk	rs387907068(A;A) rs387907068(T;T)
Alt	rs387907068(A;A) rs387907068(T;T)
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,