rs587777823

Orientation

plus

Stabilized

plus

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

Make rs587777823(-;ACCT)

Make rs587777823(ACCT;ACCT)

Reference

GRCh38 38.1/142

Chromosome

19

Position

46755840

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs587777823
dbSNP (classic)	rs587777823
ClinGen	rs587777823
ebi	rs587777823
HLI	rs587777823
Exac	rs587777823
Gnomad	rs587777823
Varsome	rs587777823
LitVar	rs587777823
Map	rs587777823
PheGenI	rs587777823
Biobank	rs587777823
1000 genomes	rs587777823
hgdp	rs587777823
ensembl	rs587777823
geneview	rs587777823
scholar	rs587777823
google	rs587777823
pharmgkb	rs587777823
gwascentral	rs587777823
openSNP	rs587777823
23andMe	rs587777823
SNPshot	rs587777823
SNPdbe	rs587777823
MSV3d	rs587777823
GWAS Ctlg	rs587777823

Max Magnitude

0

ClinVar
Risk	rs587777823(TACC;TACC)
Alt	rs587777823(TACC;TACC)
Reference	Rs587777823(-;-)
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.47259094_47259097dupACCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004443.3,