rs1057516999

Orientation

plus

Stabilized

plus

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

Make rs1057516999(-;-)

Make rs1057516999(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

105619995

Gene

FKTN

is a	snp
is	mentioned by
dbSNP	rs1057516999
dbSNP (classic)	rs1057516999
ClinGen	rs1057516999
ebi	rs1057516999
HLI	rs1057516999
Exac	rs1057516999
Gnomad	rs1057516999
Varsome	rs1057516999
LitVar	rs1057516999
Map	rs1057516999
PheGenI	rs1057516999
Biobank	rs1057516999
1000 genomes	rs1057516999
hgdp	rs1057516999
ensembl	rs1057516999
geneview	rs1057516999
scholar	rs1057516999
google	rs1057516999
pharmgkb	rs1057516999
gwascentral	rs1057516999
openSNP	rs1057516999
23andMe	rs1057516999
SNPshot	rs1057516999
SNPdbe	rs1057516999
MSV3d	rs1057516999
GWAS Ctlg	rs1057516999

Max Magnitude

0

ClinVar
Risk	rs1057516999(-;-)
Alt	rs1057516999(-;-)
Reference	Rs1057516999(T;T)
Significance	Probable-Pathogenic
Disease	Fukuyama congenital muscular dystrophy
Variation	info
Gene	FKTN
CLNDBN	Fukuyama congenital muscular dystrophy
Reversed	0
HGVS	NC_000009.11:g.108382276delT
CLNSRC
CLNACC	RCV000411430.1,