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rs1057519507

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519507(-;AT)
Make rs1057519507(AT;AT)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position35576095
GenePEX12
is asnp
is mentioned by
dbSNPrs1057519507
dbSNP (old)rs1057519507
ClinGenrs1057519507
ebirs1057519507
HLIrs1057519507
Exacrs1057519507
Gnomadrs1057519507
Varsomers1057519507
Maprs1057519507
PheGenIrs1057519507
Biobankrs1057519507
1000 genomesrs1057519507
hgdprs1057519507
ensemblrs1057519507
gopubmedrs1057519507
geneviewrs1057519507
scholarrs1057519507
googlers1057519507
pharmgkbrs1057519507
gwascentralrs1057519507
openSNPrs1057519507
23andMers1057519507
23andMe allrs1057519507
SNPshotrs1057519507
SNPdbers1057519507
MSV3drs1057519507
GWAS Ctlgrs1057519507
Max Magnitude0
ClinVar
Risk rs1057519507(AT;AT)
Alt rs1057519507(AT;AT)
Reference Rs1057519507(-;-)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 3A
Variation info
Gene PEX12
CLNDBN Peroxisome biogenesis disorder 3A
Reversed 1
HGVS NC_000017.10:g.33903115_33903116dupAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000416562.2,