rs28937905

Orientation

plus

Stabilized

plus

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

Make rs28937905(C;T)

Make rs28937905(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46755610

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs28937905
dbSNP (classic)	rs28937905
ClinGen	rs28937905
ebi	rs28937905
HLI	rs28937905
Exac	rs28937905
Gnomad	rs28937905
Varsome	rs28937905
LitVar	rs28937905
Map	rs28937905
PheGenI	rs28937905
Biobank	rs28937905
1000 genomes	rs28937905
hgdp	rs28937905
ensembl	rs28937905
geneview	rs28937905
scholar	rs28937905
google	rs28937905
pharmgkb	rs28937905
gwascentral	rs28937905
openSNP	rs28937905
23andMe	rs28937905
SNPshot	rs28937905
SNPdbe	rs28937905
MSV3d	rs28937905
GWAS Ctlg	rs28937905

GMAF

0.0004591

Max Magnitude

0

OMIM	606596
Desc	MUSCULAR DYSTROPHY, LIMB-GIRDLE, 2I
Variant	0011
Related	also

ClinVar
Risk	rs28937905(G;G) rs28937905(T;T)
Alt	rs28937905(G;G) rs28937905(T;T)
Reference	Rs28937905(C;C)
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.47258867C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004449.3,