rs587777223

Orientation

plus

Stabilized

plus

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

Make rs587777223(A;G)

Make rs587777223(G;G)

Reference

GRCh38 38.1/142

Chromosome

19

Position

46755451

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs587777223
dbSNP (classic)	rs587777223
ClinGen	rs587777223
ebi	rs587777223
HLI	rs587777223
Exac	rs587777223
Gnomad	rs587777223
Varsome	rs587777223
LitVar	rs587777223
Map	rs587777223
PheGenI	rs587777223
Biobank	rs587777223
1000 genomes	rs587777223
hgdp	rs587777223
ensembl	rs587777223
geneview	rs587777223
scholar	rs587777223
google	rs587777223
pharmgkb	rs587777223
gwascentral	rs587777223
openSNP	rs587777223
23andMe	rs587777223
SNPshot	rs587777223
SNPdbe	rs587777223
MSV3d	rs587777223
GWAS Ctlg	rs587777223

Max Magnitude

0

ClinVar
Risk	rs587777223(G;G)
Alt	rs587777223(G;G)
Reference	Rs587777223(A;A)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Limb-girdle muscular dystrophy-dystroglycanopathy
Variation	info
Gene	FKRP
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
Reversed	0
HGVS	NC_000019.9:g.47258708A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000106303.4, RCV000323348.1,