rs104894689

Orientation

plus

Stabilized

plus

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

Make rs104894689(A;A)

Make rs104894689(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46756214

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs104894689
dbSNP (classic)	rs104894689
ClinGen	rs104894689
ebi	rs104894689
HLI	rs104894689
Exac	rs104894689
Gnomad	rs104894689
Varsome	rs104894689
LitVar	rs104894689
Map	rs104894689
PheGenI	rs104894689
Biobank	rs104894689
1000 genomes	rs104894689
hgdp	rs104894689
ensembl	rs104894689
geneview	rs104894689
scholar	rs104894689
google	rs104894689
pharmgkb	rs104894689
gwascentral	rs104894689
openSNP	rs104894689
23andMe	rs104894689
SNPshot	rs104894689
SNPdbe	rs104894689
MSV3d	rs104894689
GWAS Ctlg	rs104894689

Max Magnitude

0

OMIM	606596
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104894689(A;A)
Alt	rs104894689(A;A)
Reference	Rs104894689(G;G)
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.47259471G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004451.2,