rs886041004

Orientation

plus

Stabilized

plus

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

Make rs886041004(-;-)

Make rs886041004(-;GG)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

46755852

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs886041004
dbSNP (classic)	rs886041004
ClinGen	rs886041004
ebi	rs886041004
HLI	rs886041004
Exac	rs886041004
Gnomad	rs886041004
Varsome	rs886041004
LitVar	rs886041004
Map	rs886041004
PheGenI	rs886041004
Biobank	rs886041004
1000 genomes	rs886041004
hgdp	rs886041004
ensembl	rs886041004
geneview	rs886041004
scholar	rs886041004
google	rs886041004
pharmgkb	rs886041004
gwascentral	rs886041004
openSNP	rs886041004
23andMe	rs886041004
SNPshot	rs886041004
SNPdbe	rs886041004
MSV3d	rs886041004
GWAS Ctlg	rs886041004

Max Magnitude

0

ClinVar
Risk	rs886041004(-;-)
Alt	rs886041004(-;-)
Reference	Rs886041004(GG;GG)
Significance	Probable-Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Variation	info
Gene	FKRP
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Reversed	0
HGVS	NC_000019.9:g.47259109_47259110delGG
CLNSRC
CLNACC	RCV000258204.1,