rs1060502109

Orientation

plus

Stabilized

plus

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

Make rs1060502109(A;A)

Make rs1060502109(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

46756533

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs1060502109
dbSNP (classic)	rs1060502109
ClinGen	rs1060502109
ebi	rs1060502109
HLI	rs1060502109
Exac	rs1060502109
Gnomad	rs1060502109
Varsome	rs1060502109
LitVar	rs1060502109
Map	rs1060502109
PheGenI	rs1060502109
Biobank	rs1060502109
1000 genomes	rs1060502109
hgdp	rs1060502109
ensembl	rs1060502109
geneview	rs1060502109
scholar	rs1060502109
google	rs1060502109
pharmgkb	rs1060502109
gwascentral	rs1060502109
openSNP	rs1060502109
23andMe	rs1060502109
SNPshot	rs1060502109
SNPdbe	rs1060502109
MSV3d	rs1060502109
GWAS Ctlg	rs1060502109

Max Magnitude

0

ClinVar
Risk	rs1060502109(A;A)
Alt	rs1060502109(A;A)
Reference	Rs1060502109(C;C)
Significance	Pathogenic
Disease	Walker-Warburg congenital muscular dystrophy
Variation	info
Gene	FKRP
CLNDBN	Walker-Warburg congenital muscular dystrophy
Reversed	0
HGVS	NC_000019.9:g.47259790C>A
CLNSRC
CLNACC	RCV000461046.1,