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rs1057516536

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1057516536(-;-)
Make rs1057516536(-;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46193389
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057516536
dbSNP (old)rs1057516536
ClinGenrs1057516536
ebirs1057516536
HLIrs1057516536
Exacrs1057516536
Gnomadrs1057516536
Varsomers1057516536
Maprs1057516536
PheGenIrs1057516536
Biobankrs1057516536
1000 genomesrs1057516536
hgdprs1057516536
ensemblrs1057516536
gopubmedrs1057516536
geneviewrs1057516536
scholarrs1057516536
googlers1057516536
pharmgkbrs1057516536
gwascentralrs1057516536
openSNPrs1057516536
23andMers1057516536
23andMe allrs1057516536
SNPshotrs1057516536
SNPdbers1057516536
MSV3drs1057516536
GWAS Ctlgrs1057516536
Max Magnitude0
ClinVar
Risk rs1057516536(-;-)
Alt rs1057516536(-;-)
Reference Rs1057516536(AG;AG)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46659061_46659062delCT
CLNSRC
CLNACC RCV000408976.1,