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rs1057517340

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517340(A;G)
Make rs1057517340(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46189569
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057517340
dbSNP (old)rs1057517340
ClinGenrs1057517340
ebirs1057517340
HLIrs1057517340
Exacrs1057517340
Gnomadrs1057517340
Varsomers1057517340
Maprs1057517340
PheGenIrs1057517340
Biobankrs1057517340
1000 genomesrs1057517340
hgdprs1057517340
ensemblrs1057517340
gopubmedrs1057517340
geneviewrs1057517340
scholarrs1057517340
googlers1057517340
pharmgkbrs1057517340
gwascentralrs1057517340
openSNPrs1057517340
23andMers1057517340
23andMe allrs1057517340
SNPshotrs1057517340
SNPdbers1057517340
MSV3drs1057517340
GWAS Ctlgrs1057517340
Max Magnitude0
ClinVar
Risk rs1057517340(G;G)
Alt rs1057517340(G;G)
Reference Rs1057517340(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.46655241T>C
CLNSRC
CLNACC RCV000409263.1,