rs119463991

Orientation

plus

Stabilized

plus

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

Make rs119463991(C;T)

Make rs119463991(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

105601325

Gene

FKTN

is a	snp
is	mentioned by
dbSNP	rs119463991
dbSNP (classic)	rs119463991
ClinGen	rs119463991
ebi	rs119463991
HLI	rs119463991
Exac	rs119463991
Gnomad	rs119463991
Varsome	rs119463991
LitVar	rs119463991
Map	rs119463991
PheGenI	rs119463991
Biobank	rs119463991
1000 genomes	rs119463991
hgdp	rs119463991
ensembl	rs119463991
geneview	rs119463991
scholar	rs119463991
google	rs119463991
pharmgkb	rs119463991
gwascentral	rs119463991
openSNP	rs119463991
23andMe	rs119463991
SNPshot	rs119463991
SNPdbe	rs119463991
MSV3d	rs119463991
GWAS Ctlg	rs119463991

Max Magnitude

0

OMIM	607440
Desc
Variant	0007
Related	also

ClinVar
Risk	rs119463991(T;T)
Alt	rs119463991(T;T)
Reference	Rs119463991(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation	info
Gene	FKTN
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
Reversed	0
HGVS	NC_000009.11:g.108363606C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003360.3,