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rs1057516955

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516955(-;-)
Make rs1057516955(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46193603
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057516955
dbSNP (old)rs1057516955
ClinGenrs1057516955
ebirs1057516955
HLIrs1057516955
Exacrs1057516955
Gnomadrs1057516955
Varsomers1057516955
Maprs1057516955
PheGenIrs1057516955
Biobankrs1057516955
1000 genomesrs1057516955
hgdprs1057516955
ensemblrs1057516955
gopubmedrs1057516955
geneviewrs1057516955
scholarrs1057516955
googlers1057516955
pharmgkbrs1057516955
gwascentralrs1057516955
openSNPrs1057516955
23andMers1057516955
23andMe allrs1057516955
SNPshotrs1057516955
SNPdbers1057516955
MSV3drs1057516955
GWAS Ctlgrs1057516955
Max Magnitude0
ClinVar
Risk rs1057516955(-;-)
Alt rs1057516955(-;-)
Reference Rs1057516955(T;T)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46659275delA
CLNSRC
CLNACC RCV000409861.1,