Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516999

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516999(-;-)
Make rs1057516999(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position105619995
GeneFKTN
is asnp
is mentioned by
dbSNPrs1057516999
dbSNP (old)rs1057516999
ClinGenrs1057516999
ebirs1057516999
HLIrs1057516999
Exacrs1057516999
Gnomadrs1057516999
Varsomers1057516999
Maprs1057516999
PheGenIrs1057516999
Biobankrs1057516999
1000 genomesrs1057516999
hgdprs1057516999
ensemblrs1057516999
gopubmedrs1057516999
geneviewrs1057516999
scholarrs1057516999
googlers1057516999
pharmgkbrs1057516999
gwascentralrs1057516999
openSNPrs1057516999
23andMers1057516999
23andMe allrs1057516999
SNPshotrs1057516999
SNPdbers1057516999
MSV3drs1057516999
GWAS Ctlgrs1057516999
Max Magnitude0
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,