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rs1057517449

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517449(A;A)
Make rs1057517449(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46196730
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057517449
dbSNP (old)rs1057517449
ClinGenrs1057517449
ebirs1057517449
HLIrs1057517449
Exacrs1057517449
Gnomadrs1057517449
Varsomers1057517449
Maprs1057517449
PheGenIrs1057517449
Biobankrs1057517449
1000 genomesrs1057517449
hgdprs1057517449
ensemblrs1057517449
gopubmedrs1057517449
geneviewrs1057517449
scholarrs1057517449
googlers1057517449
pharmgkbrs1057517449
gwascentralrs1057517449
openSNPrs1057517449
23andMers1057517449
23andMe allrs1057517449
SNPshotrs1057517449
SNPdbers1057517449
MSV3drs1057517449
GWAS Ctlgrs1057517449
Max Magnitude0
ClinVar
Risk rs1057517449(A;A)
Alt rs1057517449(A;A)
Reference Rs1057517449(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.46662402C>T
CLNSRC
CLNACC RCV000411160.1,