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rs1057516318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516318(C;C)
Make rs1057516318(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46194272
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057516318
dbSNP (old)rs1057516318
ClinGenrs1057516318
ebirs1057516318
HLIrs1057516318
Exacrs1057516318
Gnomadrs1057516318
Varsomers1057516318
Maprs1057516318
PheGenIrs1057516318
Biobankrs1057516318
1000 genomesrs1057516318
hgdprs1057516318
ensemblrs1057516318
gopubmedrs1057516318
geneviewrs1057516318
scholarrs1057516318
googlers1057516318
pharmgkbrs1057516318
gwascentralrs1057516318
openSNPrs1057516318
23andMers1057516318
23andMe allrs1057516318
SNPshotrs1057516318
SNPdbers1057516318
MSV3drs1057516318
GWAS Ctlgrs1057516318
Max Magnitude0
ClinVar
Risk rs1057516318(C;C)
Alt rs1057516318(C;C)
Reference Rs1057516318(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.46659944A>G
CLNSRC
CLNACC RCV000412480.1,