rs104894692

Orientation

plus

Stabilized

plus

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

Make rs104894692(A;A)

Make rs104894692(A;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

46756369

Gene

FKRP

is a	snp
is	mentioned by
dbSNP	rs104894692
dbSNP (classic)	rs104894692
ClinGen	rs104894692
ebi	rs104894692
HLI	rs104894692
Exac	rs104894692
Gnomad	rs104894692
Varsome	rs104894692
LitVar	rs104894692
Map	rs104894692
PheGenI	rs104894692
Biobank	rs104894692
1000 genomes	rs104894692
hgdp	rs104894692
ensembl	rs104894692
geneview	rs104894692
scholar	rs104894692
google	rs104894692
pharmgkb	rs104894692
gwascentral	rs104894692
openSNP	rs104894692
23andMe	rs104894692
SNPshot	rs104894692
SNPdbe	rs104894692
MSV3d	rs104894692
GWAS Ctlg	rs104894692

Max Magnitude

0

OMIM	606596
Desc
Variant	0016
Related	also

ClinVar
Risk	rs104894692(A;A)
Alt	rs104894692(A;A)
Reference	Rs104894692(T;T)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Limb-girdle muscular dystrophy-dystroglycanopathy not provided
Variation	info
Gene	FKRP
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 not provided
Reversed	0
HGVS	NC_000019.9:g.47259626T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004454.3, RCV000004455.3, RCV000494504.1,