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rs1057516830

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516830(A;G)
Make rs1057516830(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46193927
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057516830
dbSNP (old)rs1057516830
ClinGenrs1057516830
ebirs1057516830
HLIrs1057516830
Exacrs1057516830
Gnomadrs1057516830
Varsomers1057516830
Maprs1057516830
PheGenIrs1057516830
Biobankrs1057516830
1000 genomesrs1057516830
hgdprs1057516830
ensemblrs1057516830
gopubmedrs1057516830
geneviewrs1057516830
scholarrs1057516830
googlers1057516830
pharmgkbrs1057516830
gwascentralrs1057516830
openSNPrs1057516830
23andMers1057516830
23andMe allrs1057516830
SNPshotrs1057516830
SNPdbers1057516830
MSV3drs1057516830
GWAS Ctlgrs1057516830
Max Magnitude0
ClinVar
Risk rs1057516830(G;G)
Alt rs1057516830(G;G)
Reference Rs1057516830(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.46659599T>C
CLNSRC
CLNACC RCV000411269.1,