rs104894690

Orientation

plus

Stabilized

plus

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

Make rs104894690(C;T)

Make rs104894690(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46755850

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs104894690
dbSNP (classic)	rs104894690
ClinGen	rs104894690
ebi	rs104894690
HLI	rs104894690
Exac	rs104894690
Gnomad	rs104894690
Varsome	rs104894690
LitVar	rs104894690
Map	rs104894690
PheGenI	rs104894690
Biobank	rs104894690
1000 genomes	rs104894690
hgdp	rs104894690
ensembl	rs104894690
geneview	rs104894690
scholar	rs104894690
google	rs104894690
pharmgkb	rs104894690
gwascentral	rs104894690
openSNP	rs104894690
23andMe	rs104894690
SNPshot	rs104894690
SNPdbe	rs104894690
MSV3d	rs104894690
GWAS Ctlg	rs104894690

Max Magnitude

0

OMIM	606596
Desc
Variant	0014
Related	also

ClinVar
Risk	rs104894690(T;T)
Alt	rs104894690(T;T)
Reference	Rs104894690(C;C)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy-dystroglycanopathy
Variation	info
Gene	FKRP
CLNDBN	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Reversed	0
HGVS	NC_000019.9:g.47259107C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004452.4,