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rs1057516903

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1057516903(-;-)
Make rs1057516903(-;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46189944
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057516903
dbSNP (old)rs1057516903
ClinGenrs1057516903
ebirs1057516903
HLIrs1057516903
Exacrs1057516903
Gnomadrs1057516903
Varsomers1057516903
Maprs1057516903
PheGenIrs1057516903
Biobankrs1057516903
1000 genomesrs1057516903
hgdprs1057516903
ensemblrs1057516903
gopubmedrs1057516903
geneviewrs1057516903
scholarrs1057516903
googlers1057516903
pharmgkbrs1057516903
gwascentralrs1057516903
openSNPrs1057516903
23andMers1057516903
23andMe allrs1057516903
SNPshotrs1057516903
SNPdbers1057516903
MSV3drs1057516903
GWAS Ctlgrs1057516903
Max Magnitude0
ClinVar
Risk rs1057516903(-;-)
Alt rs1057516903(-;-)
Reference Rs1057516903(CT;CT)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46655616_46655617delAG
CLNSRC
CLNACC RCV000410825.1,