rs28937903

Orientation

plus

Stabilized

plus

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

Make rs28937903(A;A)

Make rs28937903(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46756814

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs28937903
dbSNP (classic)	rs28937903
ClinGen	rs28937903
ebi	rs28937903
HLI	rs28937903
Exac	rs28937903
Gnomad	rs28937903
Varsome	rs28937903
LitVar	rs28937903
Map	rs28937903
PheGenI	rs28937903
Biobank	rs28937903
1000 genomes	rs28937903
hgdp	rs28937903
ensembl	rs28937903
geneview	rs28937903
scholar	rs28937903
google	rs28937903
pharmgkb	rs28937903
gwascentral	rs28937903
openSNP	rs28937903
23andMe	rs28937903
SNPshot	rs28937903
SNPdbe	rs28937903
MSV3d	rs28937903
GWAS Ctlg	rs28937903

Max Magnitude

0

?	(A;A) (A;C) (C;C)	28

OMIM	606596
Desc	MUSCULAR DYSTROPHY, CONGENITAL, 1C, WITH NEUROLOGIC ABNORMALITIES
Variant	0009
Related	also

ClinVar
Risk	rs28937903(A;A) rs28937903(T;T)
Alt	rs28937903(A;A) rs28937903(T;T)
Reference	Rs28937903(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with mental retardation Limb-girdle muscular dystrophy-dystroglycanopathy
Variation	info
Gene	FKRP
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Reversed	0
HGVS	NC_000019.9:g.47260071C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004447.3, RCV000201040.1,