rs886042506

Orientation

plus

Stabilized

plus

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

Chromosome

19

Position

46755615

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs886042506
dbSNP (classic)	rs886042506
ClinGen	rs886042506
ebi	rs886042506
HLI	rs886042506
Exac	rs886042506
Gnomad	rs886042506
Varsome	rs886042506
LitVar	rs886042506
Map	rs886042506
PheGenI	rs886042506
Biobank	rs886042506
1000 genomes	rs886042506
hgdp	rs886042506
ensembl	rs886042506
geneview	rs886042506
scholar	rs886042506
google	rs886042506
pharmgkb	rs886042506
gwascentral	rs886042506
openSNP	rs886042506
23andMe	rs886042506
SNPshot	rs886042506
SNPdbe	rs886042506
MSV3d	rs886042506
GWAS Ctlg	rs886042506

Max Magnitude

0

ClinVar
Risk	rs886042506(GGGA;GGGA)
Alt	rs886042506(GGGA;GGGA)
Reference	Rs886042506(-;-)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5
Variation	info
Gene	FKRP
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5
Reversed	0
HGVS	NC_000019.9:g.47258869_47258872dupGGAG
CLNSRC
CLNACC	RCV000364855.1,