rs119463996

Orientation

plus

Stabilized

plus

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

Make rs119463996(C;C)

Make rs119463996(C;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

105604372

Gene

FKTN

is a	snp
is	mentioned by
dbSNP	rs119463996
dbSNP (classic)	rs119463996
ClinGen	rs119463996
ebi	rs119463996
HLI	rs119463996
Exac	rs119463996
Gnomad	rs119463996
Varsome	rs119463996
LitVar	rs119463996
Map	rs119463996
PheGenI	rs119463996
Biobank	rs119463996
1000 genomes	rs119463996
hgdp	rs119463996
ensembl	rs119463996
geneview	rs119463996
scholar	rs119463996
google	rs119463996
pharmgkb	rs119463996
gwascentral	rs119463996
openSNP	rs119463996
23andMe	rs119463996
SNPshot	rs119463996
SNPdbe	rs119463996
MSV3d	rs119463996
GWAS Ctlg	rs119463996

Max Magnitude

0

OMIM	607440
Desc
Variant	0015
Related	also

ClinVar
Risk	rs119463996(C;C)
Alt	rs119463996(C;C)
Reference	Rs119463996(T;T)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy-dystroglycanopathy
Variation	info
Gene	FKTN
CLNDBN	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
Reversed	0
HGVS	NC_000009.11:g.108366653T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003358.3,