Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517369

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517369(-;-)
Make rs1057517369(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46193213
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057517369
dbSNP (classic)rs1057517369
ClinGenrs1057517369
ebirs1057517369
HLIrs1057517369
Exacrs1057517369
Gnomadrs1057517369
Varsomers1057517369
LitVarrs1057517369
Maprs1057517369
PheGenIrs1057517369
Biobankrs1057517369
1000 genomesrs1057517369
hgdprs1057517369
ensemblrs1057517369
geneviewrs1057517369
scholarrs1057517369
googlers1057517369
pharmgkbrs1057517369
gwascentralrs1057517369
openSNPrs1057517369
23andMers1057517369
23andMe allrs1057517369
SNPshotrs1057517369
SNPdbers1057517369
MSV3drs1057517369
GWAS Ctlgrs1057517369
Max Magnitude0
ClinVar
Risk rs1057517369(-;-)
Alt rs1057517369(-;-)
Reference Rs1057517369(C;C)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46658885delG
CLNSRC
CLNACC RCV000410334.1,