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rs1057517160

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGC;CAGC) 0 common in clinvar
Make rs1057517160(-;-)
Make rs1057517160(-;CAGC)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position105607829
GeneFKTN
is asnp
is mentioned by
dbSNPrs1057517160
dbSNP (old)rs1057517160
ClinGenrs1057517160
ebirs1057517160
HLIrs1057517160
Exacrs1057517160
Gnomadrs1057517160
Varsomers1057517160
Maprs1057517160
PheGenIrs1057517160
Biobankrs1057517160
1000 genomesrs1057517160
hgdprs1057517160
ensemblrs1057517160
gopubmedrs1057517160
geneviewrs1057517160
scholarrs1057517160
googlers1057517160
pharmgkbrs1057517160
gwascentralrs1057517160
openSNPrs1057517160
23andMers1057517160
23andMe allrs1057517160
SNPshotrs1057517160
SNPdbers1057517160
MSV3drs1057517160
GWAS Ctlgrs1057517160
Max Magnitude0
ClinVar
Risk rs1057517160(-;-)
Alt rs1057517160(-;-)
Reference Rs1057517160(CAGC;CAGC)
Significance Probable-Pathogenic
Disease Fukuyama congenital muscular dystrophy
Variation info
Gene FKTN
CLNDBN Fukuyama congenital muscular dystrophy
Reversed 0
HGVS NC_000009.11:g.108370110_108370113delCAGC
CLNSRC
CLNACC RCV000409546.1,