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rs1057517355

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517355(-;-)
Make rs1057517355(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46195867
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057517355
dbSNP (old)rs1057517355
ClinGenrs1057517355
ebirs1057517355
HLIrs1057517355
Exacrs1057517355
Gnomadrs1057517355
Varsomers1057517355
Maprs1057517355
PheGenIrs1057517355
Biobankrs1057517355
1000 genomesrs1057517355
hgdprs1057517355
ensemblrs1057517355
gopubmedrs1057517355
geneviewrs1057517355
scholarrs1057517355
googlers1057517355
pharmgkbrs1057517355
gwascentralrs1057517355
openSNPrs1057517355
23andMers1057517355
23andMe allrs1057517355
SNPshotrs1057517355
SNPdbers1057517355
MSV3drs1057517355
GWAS Ctlgrs1057517355
Max Magnitude0
ClinVar
Risk rs1057517355(-;-)
Alt rs1057517355(-;-)
Reference Rs1057517355(A;A)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46661539delT
CLNSRC
CLNACC RCV000409087.1,