rs104894691

Orientation

plus

Stabilized

plus

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

Make rs104894691(C;C)

Make rs104894691(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46756349

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs104894691
dbSNP (classic)	rs104894691
ClinGen	rs104894691
ebi	rs104894691
HLI	rs104894691
Exac	rs104894691
Gnomad	rs104894691
Varsome	rs104894691
LitVar	rs104894691
Map	rs104894691
PheGenI	rs104894691
Biobank	rs104894691
1000 genomes	rs104894691
hgdp	rs104894691
ensembl	rs104894691
geneview	rs104894691
scholar	rs104894691
google	rs104894691
pharmgkb	rs104894691
gwascentral	rs104894691
openSNP	rs104894691
23andMe	rs104894691
SNPshot	rs104894691
SNPdbe	rs104894691
MSV3d	rs104894691
GWAS Ctlg	rs104894691

Max Magnitude

0

OMIM	606596
Desc
Variant	0015
Related	also

ClinVar
Risk	rs104894691(C;C)
Alt	rs104894691(C;C)
Reference	Rs104894691(T;T)
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.47259606T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004453.3,