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rs1057516258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516258(-;-)
Make rs1057516258(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position105604274
GeneFKTN
is asnp
is mentioned by
dbSNPrs1057516258
dbSNP (old)rs1057516258
ClinGenrs1057516258
ebirs1057516258
HLIrs1057516258
Exacrs1057516258
Gnomadrs1057516258
Varsomers1057516258
LitVarrs1057516258
Maprs1057516258
PheGenIrs1057516258
Biobankrs1057516258
1000 genomesrs1057516258
hgdprs1057516258
ensemblrs1057516258
gopubmedrs1057516258
geneviewrs1057516258
scholarrs1057516258
googlers1057516258
pharmgkbrs1057516258
gwascentralrs1057516258
openSNPrs1057516258
23andMers1057516258
23andMe allrs1057516258
SNPshotrs1057516258
SNPdbers1057516258
MSV3drs1057516258
GWAS Ctlgrs1057516258
Max Magnitude0
ClinVar
Risk rs1057516258(-;-)
Alt rs1057516258(-;-)
Reference Rs1057516258(A;A)
Significance Probable-Pathogenic
Disease Fukuyama congenital muscular dystrophy
Variation info
Gene FKTN
CLNDBN Fukuyama congenital muscular dystrophy
Reversed 0
HGVS NC_000009.11:g.108366555delA
CLNSRC
CLNACC RCV000410463.1,