rs28937902

Orientation

plus

Stabilized

plus

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

Make rs28937902(A;A)

Make rs28937902(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46756113

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs28937902
dbSNP (classic)	rs28937902
ClinGen	rs28937902
ebi	rs28937902
HLI	rs28937902
Exac	rs28937902
Gnomad	rs28937902
Varsome	rs28937902
LitVar	rs28937902
Map	rs28937902
PheGenI	rs28937902
Biobank	rs28937902
1000 genomes	rs28937902
hgdp	rs28937902
ensembl	rs28937902
geneview	rs28937902
scholar	rs28937902
google	rs28937902
pharmgkb	rs28937902
gwascentral	rs28937902
openSNP	rs28937902
23andMe	rs28937902
SNPshot	rs28937902
SNPdbe	rs28937902
MSV3d	rs28937902
GWAS Ctlg	rs28937902

Max Magnitude

0

OMIM	606596
Desc	MUSCULAR DYSTROPHY, CONGENITAL, 1C, WITH NEUROLOGIC ABNORMALITIES
Variant	0008
Related	also

ClinVar
Risk	rs28937902(A;A)
Alt	rs28937902(A;A)
Reference	Rs28937902(C;C)
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.47259370C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004446.3,