rs886044496

Orientation

plus

Stabilized

plus

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

Chromosome

19

Position

46756188

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs886044496
dbSNP (classic)	rs886044496
ClinGen	rs886044496
ebi	rs886044496
HLI	rs886044496
Exac	rs886044496
Gnomad	rs886044496
Varsome	rs886044496
LitVar	rs886044496
Map	rs886044496
PheGenI	rs886044496
Biobank	rs886044496
1000 genomes	rs886044496
hgdp	rs886044496
ensembl	rs886044496
geneview	rs886044496
scholar	rs886044496
google	rs886044496
pharmgkb	rs886044496
gwascentral	rs886044496
openSNP	rs886044496
23andMe	rs886044496
SNPshot	rs886044496
SNPdbe	rs886044496
MSV3d	rs886044496
GWAS Ctlg	rs886044496

Max Magnitude

0

ClinVar
Risk	rs886044496(-;-)
Alt	rs886044496(-;-)
Reference	Rs886044496(CCCCGCTGGCCA;CCCCGCTGGCCA)
Significance	Probable-Pathogenic
Disease	Limb-girdle muscular dystrophy-dystroglycanopathy
Variation	info
Gene	FKRP
CLNDBN	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Reversed	0
HGVS	NC_000019.9:g.47259445_47259456delCCCGCTGGCCAC
CLNSRC
CLNACC	RCV000317850.1,