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rs1057517465

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517465(-;-)
Make rs1057517465(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92517439
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517465
dbSNP (old)rs1057517465
ClinGenrs1057517465
ebirs1057517465
HLIrs1057517465
Exacrs1057517465
Gnomadrs1057517465
Varsomers1057517465
Maprs1057517465
PheGenIrs1057517465
Biobankrs1057517465
1000 genomesrs1057517465
hgdprs1057517465
ensemblrs1057517465
gopubmedrs1057517465
geneviewrs1057517465
scholarrs1057517465
googlers1057517465
pharmgkbrs1057517465
gwascentralrs1057517465
openSNPrs1057517465
23andMers1057517465
23andMe allrs1057517465
SNPshotrs1057517465
SNPdbers1057517465
MSV3drs1057517465
GWAS Ctlgrs1057517465
Max Magnitude0
ClinVar
Risk rs1057517465(-;-)
Alt rs1057517465(-;-)
Reference Rs1057517465(A;A)
Significance Probable-Pathogenic
Disease Peroxisome biogenesis disorder 1B Zellweger syndrome
Variation info
Gene PEX1
CLNDBN Peroxisome biogenesis disorder 1B Zellweger syndrome
Reversed 1
HGVS NC_000007.13:g.92146753delT
CLNSRC
CLNACC RCV000409234.1, RCV000411232.1,