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rs1057517529

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs1057517529(AA;C)
Make rs1057517529(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92504876
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517529
dbSNP (old)rs1057517529
ClinGenrs1057517529
ebirs1057517529
HLIrs1057517529
Exacrs1057517529
Gnomadrs1057517529
Varsomers1057517529
Maprs1057517529
PheGenIrs1057517529
Biobankrs1057517529
1000 genomesrs1057517529
hgdprs1057517529
ensemblrs1057517529
gopubmedrs1057517529
geneviewrs1057517529
scholarrs1057517529
googlers1057517529
pharmgkbrs1057517529
gwascentralrs1057517529
openSNPrs1057517529
23andMers1057517529
23andMe allrs1057517529
SNPshotrs1057517529
SNPdbers1057517529
MSV3drs1057517529
GWAS Ctlgrs1057517529
Max Magnitude0
ClinVar
Risk rs1057517529(C;C)
Alt rs1057517529(C;C)
Reference Rs1057517529(AA;AA)
Significance Probable-Pathogenic
Disease Zellweger syndrome Peroxisome biogenesis disorder 1B
Variation info
Gene PEX1
CLNDBN Zellweger syndrome Peroxisome biogenesis disorder 1B
Reversed 1
HGVS NC_000007.13:g.92134190_92134191delTTinsG
CLNSRC
CLNACC RCV000410663.1, RCV000411651.1,