rs104894680

Orientation

plus

Stabilized

plus

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

Make rs104894680(A;A)

Make rs104894680(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46756604

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs104894680
dbSNP (classic)	rs104894680
ClinGen	rs104894680
ebi	rs104894680
HLI	rs104894680
Exac	rs104894680
Gnomad	rs104894680
Varsome	rs104894680
LitVar	rs104894680
Map	rs104894680
PheGenI	rs104894680
Biobank	rs104894680
1000 genomes	rs104894680
hgdp	rs104894680
ensembl	rs104894680
geneview	rs104894680
scholar	rs104894680
google	rs104894680
pharmgkb	rs104894680
gwascentral	rs104894680
openSNP	rs104894680
23andMe	rs104894680
SNPshot	rs104894680
SNPdbe	rs104894680
MSV3d	rs104894680
GWAS Ctlg	rs104894680

GMAF

0.0004591

Max Magnitude

0

OMIM	606596
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894680(A;A) rs104894680(G;G) rs104894680(T;T)
Alt	rs104894680(A;A) rs104894680(G;G) rs104894680(T;T)
Reference	Rs104894680(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy without mental retardation not specified
Variation	info
Gene	FKRP
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 not specified
Reversed	0
HGVS	NC_000019.9:g.47259861C>A; NC_000019.9:g.47259861C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004440.2, RCV000285599.1,