rs121908110

Orientation

plus

Stabilized

plus

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

Make rs121908110(A;G)

Make rs121908110(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46756837

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs121908110
dbSNP (classic)	rs121908110
ClinGen	rs121908110
ebi	rs121908110
HLI	rs121908110
Exac	rs121908110
Gnomad	rs121908110
Varsome	rs121908110
LitVar	rs121908110
Map	rs121908110
PheGenI	rs121908110
Biobank	rs121908110
1000 genomes	rs121908110
hgdp	rs121908110
ensembl	rs121908110
geneview	rs121908110
scholar	rs121908110
google	rs121908110
pharmgkb	rs121908110
gwascentral	rs121908110
openSNP	rs121908110
23andMe	rs121908110
SNPshot	rs121908110
SNPdbe	rs121908110
MSV3d	rs121908110
GWAS Ctlg	rs121908110

Max Magnitude

0

OMIM	606596
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121908110(G;G)
Alt	rs121908110(G;G)
Reference	Rs121908110(A;A)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy without mental retardation not provided Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 Limb-girdle muscular dystrophy-dystroglycanopathy Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Muscular dystrophy
Variation	info
Gene	FKRP
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 not provided Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Muscular dystrophy
Reversed	0
HGVS	NC_000019.9:g.47260094A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004457.3, RCV000082172.3, RCV000178346.2, RCV000178347.2, RCV000178348.2, RCV000194089.1,