rs543163491

Orientation

plus

Stabilized

plus

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

Make rs543163491(A;G)

Make rs543163491(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

46755995

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs543163491
dbSNP (classic)	rs543163491
ClinGen	rs543163491
ebi	rs543163491
HLI	rs543163491
Exac	rs543163491
Gnomad	rs543163491
Varsome	rs543163491
LitVar	rs543163491
Map	rs543163491
PheGenI	rs543163491
Biobank	rs543163491
1000 genomes	rs543163491
hgdp	rs543163491
ensembl	rs543163491
geneview	rs543163491
scholar	rs543163491
google	rs543163491
pharmgkb	rs543163491
gwascentral	rs543163491
openSNP	rs543163491
23andMe	rs543163491
SNPshot	rs543163491
SNPdbe	rs543163491
MSV3d	rs543163491
GWAS Ctlg	rs543163491

Max Magnitude

0

ClinVar
Risk	rs543163491(G;G)
Alt	rs543163491(G;G)
Reference	Rs543163491(A;A)
Significance	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.47259252A>G
CLNSRC
CLNACC	RCV000336106.1,