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rs1057516966

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516966(-;-)
Make rs1057516966(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position105607941
GeneFKTN
is asnp
is mentioned by
dbSNPrs1057516966
dbSNP (old)rs1057516966
ClinGenrs1057516966
ebirs1057516966
HLIrs1057516966
Exacrs1057516966
Gnomadrs1057516966
Varsomers1057516966
Maprs1057516966
PheGenIrs1057516966
Biobankrs1057516966
1000 genomesrs1057516966
hgdprs1057516966
ensemblrs1057516966
gopubmedrs1057516966
geneviewrs1057516966
scholarrs1057516966
googlers1057516966
pharmgkbrs1057516966
gwascentralrs1057516966
openSNPrs1057516966
23andMers1057516966
23andMe allrs1057516966
SNPshotrs1057516966
SNPdbers1057516966
MSV3drs1057516966
GWAS Ctlgrs1057516966
Max Magnitude0
ClinVar
Risk rs1057516966(-;-)
Alt rs1057516966(-;-)
Reference Rs1057516966(C;C)
Significance Probable-Pathogenic
Disease Fukuyama congenital muscular dystrophy
Variation info
Gene FKTN
CLNDBN Fukuyama congenital muscular dystrophy
Reversed 0
HGVS NC_000009.11:g.108370222delC
CLNSRC
CLNACC RCV000409829.1,