rs28937904

Orientation

plus

Stabilized

plus

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

Make rs28937904(G;T)

Make rs28937904(T;T)

Reference

GRCh38 38.1/142

Chromosome

19

Position

46756663

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs28937904
dbSNP (classic)	rs28937904
ClinGen	rs28937904
ebi	rs28937904
HLI	rs28937904
Exac	rs28937904
Gnomad	rs28937904
Varsome	rs28937904
LitVar	rs28937904
Map	rs28937904
PheGenI	rs28937904
Biobank	rs28937904
1000 genomes	rs28937904
hgdp	rs28937904
ensembl	rs28937904
geneview	rs28937904
scholar	rs28937904
google	rs28937904
pharmgkb	rs28937904
gwascentral	rs28937904
openSNP	rs28937904
23andMe	rs28937904
SNPshot	rs28937904
SNPdbe	rs28937904
MSV3d	rs28937904
GWAS Ctlg	rs28937904

Max Magnitude

0

OMIM	606596
Desc	MUSCULAR DYSTROPHY, CONGENITAL, 1C, WITH NEUROLOGIC ABNORMALITIES
Variant	0010
Related	also

ClinVar
Risk	rs28937904(T;T)
Alt	rs28937904(T;T)
Reference	Rs28937904(G;G)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with mental retardation
Variation	info
Gene	FKRP
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5
Reversed	0
HGVS	NC_000019.9:g.47259920G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004448.3,