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rs1057516871

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516871(A;G)
Make rs1057516871(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46197086
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs1057516871
dbSNP (old)rs1057516871
ClinGenrs1057516871
ebirs1057516871
HLIrs1057516871
Exacrs1057516871
Gnomadrs1057516871
Varsomers1057516871
LitVarrs1057516871
Maprs1057516871
PheGenIrs1057516871
Biobankrs1057516871
1000 genomesrs1057516871
hgdprs1057516871
ensemblrs1057516871
gopubmedrs1057516871
geneviewrs1057516871
scholarrs1057516871
googlers1057516871
pharmgkbrs1057516871
gwascentralrs1057516871
openSNPrs1057516871
23andMers1057516871
23andMe allrs1057516871
SNPshotrs1057516871
SNPdbers1057516871
MSV3drs1057516871
GWAS Ctlgrs1057516871
Max Magnitude0
ClinVar
Risk rs1057516871(G;G)
Alt rs1057516871(G;G)
Reference Rs1057516871(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.46662758T>C
CLNSRC
CLNACC RCV000412225.1,