rs104894679

Orientation

plus

Stabilized

plus

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

Make rs104894679(A;G)

Make rs104894679(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46756376

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs104894679
dbSNP (classic)	rs104894679
ClinGen	rs104894679
ebi	rs104894679
HLI	rs104894679
Exac	rs104894679
Gnomad	rs104894679
Varsome	rs104894679
LitVar	rs104894679
Map	rs104894679
PheGenI	rs104894679
Biobank	rs104894679
1000 genomes	rs104894679
hgdp	rs104894679
ensembl	rs104894679
geneview	rs104894679
scholar	rs104894679
google	rs104894679
pharmgkb	rs104894679
gwascentral	rs104894679
openSNP	rs104894679
23andMe	rs104894679
SNPshot	rs104894679
SNPdbe	rs104894679
MSV3d	rs104894679
GWAS Ctlg	rs104894679

Max Magnitude

0

OMIM	606596
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894679(G;G)
Alt	rs104894679(G;G)
Reference	Rs104894679(A;A)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy without mental retardation
Variation	info
Gene	FKRP
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5
Reversed	0
HGVS	NC_000019.9:g.47259633A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004439.3,