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rs1057516477

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516477(G;T)
Make rs1057516477(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46196850
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057516477
dbSNP (classic)rs1057516477
ClinGenrs1057516477
ebirs1057516477
HLIrs1057516477
Exacrs1057516477
Gnomadrs1057516477
Varsomers1057516477
LitVarrs1057516477
Maprs1057516477
PheGenIrs1057516477
Biobankrs1057516477
1000 genomesrs1057516477
hgdprs1057516477
ensemblrs1057516477
geneviewrs1057516477
scholarrs1057516477
googlers1057516477
pharmgkbrs1057516477
gwascentralrs1057516477
openSNPrs1057516477
23andMers1057516477
23andMe allrs1057516477
SNPshotrs1057516477
SNPdbers1057516477
MSV3drs1057516477
GWAS Ctlgrs1057516477
Max Magnitude0
ClinVar
Risk rs1057516477(T;T)
Alt rs1057516477(T;T)
Reference Rs1057516477(G;G)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46662522C>A
CLNSRC
CLNACC RCV000409804.1,