rs119463992

Orientation

plus

Stabilized

plus

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

Make rs119463992(A;A)

Make rs119463992(A;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

105617968

Gene

FKTN

is a	snp
is	mentioned by
dbSNP	rs119463992
dbSNP (classic)	rs119463992
ClinGen	rs119463992
ebi	rs119463992
HLI	rs119463992
Exac	rs119463992
Gnomad	rs119463992
Varsome	rs119463992
LitVar	rs119463992
Map	rs119463992
PheGenI	rs119463992
Biobank	rs119463992
1000 genomes	rs119463992
hgdp	rs119463992
ensembl	rs119463992
geneview	rs119463992
scholar	rs119463992
google	rs119463992
pharmgkb	rs119463992
gwascentral	rs119463992
openSNP	rs119463992
23andMe	rs119463992
SNPshot	rs119463992
SNPdbe	rs119463992
MSV3d	rs119463992
GWAS Ctlg	rs119463992

Max Magnitude

0

OMIM	607440
Desc
Variant	0009
Related	also

ClinVar
Risk	rs119463992(A;A)
Alt	rs119463992(A;A)
Reference	Rs119463992(G;G)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy-dystroglycanopathy Congenital muscular dystrophy-dystroglycanopathy without mental retardation not specified
Variation	info
Gene	FKTN
CLNDBN	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 not specified
Reversed	0
HGVS	NC_000009.11:g.108380249G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003362.3, RCV000003363.3, RCV000180551.1,