rs750764003

Orientation

plus

Stabilized

plus

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

Make rs750764003(A;G)

Make rs750764003(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

22

Position

50580198

Gene	CHKB, CHKB-CPT1B, CPT1B

is a	snp
is	mentioned by
dbSNP	rs750764003
dbSNP (classic)	rs750764003
ClinGen	rs750764003
ebi	rs750764003
HLI	rs750764003
Exac	rs750764003
Gnomad	rs750764003
Varsome	rs750764003
LitVar	rs750764003
Map	rs750764003
PheGenI	rs750764003
Biobank	rs750764003
1000 genomes	rs750764003
hgdp	rs750764003
ensembl	rs750764003
geneview	rs750764003
scholar	rs750764003
google	rs750764003
pharmgkb	rs750764003
gwascentral	rs750764003
openSNP	rs750764003
23andMe	rs750764003
SNPshot	rs750764003
SNPdbe	rs750764003
MSV3d	rs750764003
GWAS Ctlg	rs750764003

Max Magnitude

0

ClinVar
Risk	rs750764003(G;G) rs750764003(T;T)
Alt	rs750764003(G;G) rs750764003(T;T)
Reference	Rs750764003(A;A)
Significance	Pathogenic
Disease	Muscular dystrophy
Variation	info
Gene	CHKB-CPT1B CPT1B CHKB
CLNDBN	Muscular dystrophy, congenital, megaconial type
Reversed	0
HGVS	NC_000022.10:g.51018627A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023942.3,