rs104894684

Orientation

plus

Stabilized

plus

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

Make rs104894684(A;A)

Make rs104894684(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46756403

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs104894684
dbSNP (classic)	rs104894684
ClinGen	rs104894684
ebi	rs104894684
HLI	rs104894684
Exac	rs104894684
Gnomad	rs104894684
Varsome	rs104894684
LitVar	rs104894684
Map	rs104894684
PheGenI	rs104894684
Biobank	rs104894684
1000 genomes	rs104894684
hgdp	rs104894684
ensembl	rs104894684
geneview	rs104894684
scholar	rs104894684
google	rs104894684
pharmgkb	rs104894684
gwascentral	rs104894684
openSNP	rs104894684
23andMe	rs104894684
SNPshot	rs104894684
SNPdbe	rs104894684
MSV3d	rs104894684
GWAS Ctlg	rs104894684

Max Magnitude

0

OMIM	606596
Desc
Variant	0017
Related	also

ClinVar
Risk	rs104894684(A;A)
Alt	rs104894684(A;A)
Reference	Rs104894684(G;G)
Significance	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.47259660G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004456.3,