rs104894683

Orientation

plus

Stabilized

plus

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

Make rs104894683(A;A)

Make rs104894683(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46755685

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs104894683
dbSNP (classic)	rs104894683
ClinGen	rs104894683
ebi	rs104894683
HLI	rs104894683
Exac	rs104894683
Gnomad	rs104894683
Varsome	rs104894683
LitVar	rs104894683
Map	rs104894683
PheGenI	rs104894683
Biobank	rs104894683
1000 genomes	rs104894683
hgdp	rs104894683
ensembl	rs104894683
geneview	rs104894683
scholar	rs104894683
google	rs104894683
pharmgkb	rs104894683
gwascentral	rs104894683
openSNP	rs104894683
23andMe	rs104894683
SNPshot	rs104894683
SNPdbe	rs104894683
MSV3d	rs104894683
GWAS Ctlg	rs104894683

GMAF

0.004132

Max Magnitude

0

OMIM	606596
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894683(A;A)
Alt	rs104894683(A;A)
Reference	Rs104894683(G;G)
Significance	Other
Disease	Limb-girdle muscular dystrophy-dystroglycanopathy Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Walker-Warburg congenital muscular dystrophy not specified
Variation	info
Gene	FKRP
CLNDBN	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Walker-Warburg congenital muscular dystrophy not specified
Reversed	0
HGVS	NC_000019.9:g.47258942G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004450.3, RCV000178349.1, RCV000178350.1, RCV000230908.2, RCV000236146.2,