rs786205117

Orientation

minus

Stabilized

minus

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

Make rs786205117(-;T)

Make rs786205117(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

22

Position

50581542

Gene	CHKB, CHKB-AS1, CHKB-CPT1B

is a	snp
is	mentioned by
dbSNP	rs786205117
dbSNP (classic)	rs786205117
ClinGen	rs786205117
ebi	rs786205117
HLI	rs786205117
Exac	rs786205117
Gnomad	rs786205117
Varsome	rs786205117
LitVar	rs786205117
Map	rs786205117
PheGenI	rs786205117
Biobank	rs786205117
1000 genomes	rs786205117
hgdp	rs786205117
ensembl	rs786205117
geneview	rs786205117
scholar	rs786205117
google	rs786205117
pharmgkb	rs786205117
gwascentral	rs786205117
openSNP	rs786205117
23andMe	rs786205117
SNPshot	rs786205117
SNPdbe	rs786205117
MSV3d	rs786205117
GWAS Ctlg	rs786205117

Max Magnitude

0

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,