rs104894681

Orientation

plus

Stabilized

plus

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

Make rs104894681(C;T)

Make rs104894681(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46756793

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs104894681
dbSNP (classic)	rs104894681
ClinGen	rs104894681
ebi	rs104894681
HLI	rs104894681
Exac	rs104894681
Gnomad	rs104894681
Varsome	rs104894681
LitVar	rs104894681
Map	rs104894681
PheGenI	rs104894681
Biobank	rs104894681
1000 genomes	rs104894681
hgdp	rs104894681
ensembl	rs104894681
geneview	rs104894681
scholar	rs104894681
google	rs104894681
pharmgkb	rs104894681
gwascentral	rs104894681
openSNP	rs104894681
23andMe	rs104894681
SNPshot	rs104894681
SNPdbe	rs104894681
MSV3d	rs104894681
GWAS Ctlg	rs104894681

Max Magnitude

0

OMIM	606596
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894681(T;T)
Alt	rs104894681(T;T)
Reference	Rs104894681(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy without mental retardation Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5
Variation	info
Gene	FKRP
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5
Reversed	0
HGVS	NC_000019.9:g.47260050C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004441.3, RCV000360542.1,