rs104894682

Orientation

plus

Stabilized

plus

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

Make rs104894682(A;A)

Make rs104894682(A;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46756936

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs104894682
dbSNP (classic)	rs104894682
ClinGen	rs104894682
ebi	rs104894682
HLI	rs104894682
Exac	rs104894682
Gnomad	rs104894682
Varsome	rs104894682
LitVar	rs104894682
Map	rs104894682
PheGenI	rs104894682
Biobank	rs104894682
1000 genomes	rs104894682
hgdp	rs104894682
ensembl	rs104894682
geneview	rs104894682
scholar	rs104894682
google	rs104894682
pharmgkb	rs104894682
gwascentral	rs104894682
openSNP	rs104894682
23andMe	rs104894682
SNPshot	rs104894682
SNPdbe	rs104894682
MSV3d	rs104894682
GWAS Ctlg	rs104894682

Max Magnitude

0

OMIM	606596
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894682(A;A)
Alt	rs104894682(A;A)
Reference	Rs104894682(T;T)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy-dystroglycanopathy Walker-Warburg congenital muscular dystrophy
Variation	info
Gene	FKRP
CLNDBN	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 Walker-Warburg congenital muscular dystrophy
Reversed	0
HGVS	NC_000019.9:g.47260193T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004444.4, RCV000471321.1,