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rs1057517422

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517422(-;-)
Make rs1057517422(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46190762
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057517422
dbSNP (classic)rs1057517422
ClinGenrs1057517422
ebirs1057517422
HLIrs1057517422
Exacrs1057517422
Gnomadrs1057517422
Varsomers1057517422
LitVarrs1057517422
Maprs1057517422
PheGenIrs1057517422
Biobankrs1057517422
1000 genomesrs1057517422
hgdprs1057517422
ensemblrs1057517422
geneviewrs1057517422
scholarrs1057517422
googlers1057517422
pharmgkbrs1057517422
gwascentralrs1057517422
openSNPrs1057517422
23andMers1057517422
23andMe allrs1057517422
SNPshotrs1057517422
SNPdbers1057517422
MSV3drs1057517422
GWAS Ctlgrs1057517422
Max Magnitude0
ClinVar
Risk rs1057517422(-;-)
Alt rs1057517422(-;-)
Reference Rs1057517422(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.46656434delT
CLNSRC
CLNACC RCV000410384.1,