rs119464998

Orientation

plus

Stabilized

plus

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

Make rs119464998(A;G)

Make rs119464998(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

105620001

Gene

FKTN

is a	snp
is	mentioned by
dbSNP	rs119464998
dbSNP (classic)	rs119464998
ClinGen	rs119464998
ebi	rs119464998
HLI	rs119464998
Exac	rs119464998
Gnomad	rs119464998
Varsome	rs119464998
LitVar	rs119464998
Map	rs119464998
PheGenI	rs119464998
Biobank	rs119464998
1000 genomes	rs119464998
hgdp	rs119464998
ensembl	rs119464998
geneview	rs119464998
scholar	rs119464998
google	rs119464998
pharmgkb	rs119464998
gwascentral	rs119464998
openSNP	rs119464998
23andMe	rs119464998
SNPshot	rs119464998
SNPdbe	rs119464998
MSV3d	rs119464998
GWAS Ctlg	rs119464998

Max Magnitude

0

OMIM	607440
Desc
Variant	0017
Related	also

ClinVar
Risk	rs119464998(G;G)
Alt	rs119464998(G;G)
Reference	Rs119464998(A;A)
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.108382282A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003370.2,