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rs1057517153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517153(-;A)
Make rs1057517153(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46197019
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs1057517153
dbSNP (old)rs1057517153
ClinGenrs1057517153
ebirs1057517153
HLIrs1057517153
Exacrs1057517153
Gnomadrs1057517153
Varsomers1057517153
Maprs1057517153
PheGenIrs1057517153
Biobankrs1057517153
1000 genomesrs1057517153
hgdprs1057517153
ensemblrs1057517153
gopubmedrs1057517153
geneviewrs1057517153
scholarrs1057517153
googlers1057517153
pharmgkbrs1057517153
gwascentralrs1057517153
openSNPrs1057517153
23andMers1057517153
23andMe allrs1057517153
SNPshotrs1057517153
SNPdbers1057517153
MSV3drs1057517153
GWAS Ctlgrs1057517153
Max Magnitude0
ClinVar
Risk rs1057517153(A;A)
Alt rs1057517153(A;A)
Reference Rs1057517153(-;-)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46662691_46662692insT
CLNSRC
CLNACC RCV000412188.1,