rs119463990

Orientation

plus

Stabilized

plus

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

Make rs119463990(C;T)

Make rs119463990(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

105596631

Gene

FKTN

is a	snp
is	mentioned by
dbSNP	rs119463990
dbSNP (classic)	rs119463990
ClinGen	rs119463990
ebi	rs119463990
HLI	rs119463990
Exac	rs119463990
Gnomad	rs119463990
Varsome	rs119463990
LitVar	rs119463990
Map	rs119463990
PheGenI	rs119463990
Biobank	rs119463990
1000 genomes	rs119463990
hgdp	rs119463990
ensembl	rs119463990
geneview	rs119463990
scholar	rs119463990
google	rs119463990
pharmgkb	rs119463990
gwascentral	rs119463990
openSNP	rs119463990
23andMe	rs119463990
SNPshot	rs119463990
SNPdbe	rs119463990
MSV3d	rs119463990
GWAS Ctlg	rs119463990

Max Magnitude

0

OMIM	607440
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119463990(T;T)
Alt	rs119463990(T;T)
Reference	Rs119463990(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.108358912C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003353.3,