rs766339195

Orientation

plus

Stabilized

plus

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

Make rs766339195(A;A)

Make rs766339195(A;C)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

46755524

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs766339195
dbSNP (classic)	rs766339195
ClinGen	rs766339195
ebi	rs766339195
HLI	rs766339195
Exac	rs766339195
Gnomad	rs766339195
Varsome	rs766339195
LitVar	rs766339195
Map	rs766339195
PheGenI	rs766339195
Biobank	rs766339195
1000 genomes	rs766339195
hgdp	rs766339195
ensembl	rs766339195
geneview	rs766339195
scholar	rs766339195
google	rs766339195
pharmgkb	rs766339195
gwascentral	rs766339195
openSNP	rs766339195
23andMe	rs766339195
SNPshot	rs766339195
SNPdbe	rs766339195
MSV3d	rs766339195
GWAS Ctlg	rs766339195

Max Magnitude

0

ClinVar
Risk	rs766339195(A;A) rs766339195(T;T)
Alt	rs766339195(A;A) rs766339195(T;T)
Reference	Rs766339195(C;C)
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.47258781C>A
CLNSRC
CLNACC	RCV000226653.1,