rs267606814

Orientation

plus

Stabilized

plus

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

Make rs267606814(C;T)

Make rs267606814(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

105617967

Gene

FKTN

is a	snp
is	mentioned by
dbSNP	rs267606814
dbSNP (classic)	rs267606814
ClinGen	rs267606814
ebi	rs267606814
HLI	rs267606814
Exac	rs267606814
Gnomad	rs267606814
Varsome	rs267606814
LitVar	rs267606814
Map	rs267606814
PheGenI	rs267606814
Biobank	rs267606814
1000 genomes	rs267606814
hgdp	rs267606814
ensembl	rs267606814
geneview	rs267606814
scholar	rs267606814
google	rs267606814
pharmgkb	rs267606814
gwascentral	rs267606814
openSNP	rs267606814
23andMe	rs267606814
SNPshot	rs267606814
SNPdbe	rs267606814
MSV3d	rs267606814
GWAS Ctlg	rs267606814

Max Magnitude

0

ClinVar
Risk	rs267606814(T;T)
Alt	rs267606814(T;T)
Reference	Rs267606814(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Fukuyama congenital muscular dystrophy
Variation	info
Gene	FKTN
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 Fukuyama congenital muscular dystrophy
Reversed	0
HGVS	NC_000009.11:g.108380248C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003371.3, RCV000169165.1,