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rs1057517506

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517506(-;C)
Make rs1057517506(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92518181
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517506
dbSNP (old)rs1057517506
ClinGenrs1057517506
ebirs1057517506
HLIrs1057517506
Exacrs1057517506
Gnomadrs1057517506
Varsomers1057517506
Maprs1057517506
PheGenIrs1057517506
Biobankrs1057517506
1000 genomesrs1057517506
hgdprs1057517506
ensemblrs1057517506
gopubmedrs1057517506
geneviewrs1057517506
scholarrs1057517506
googlers1057517506
pharmgkbrs1057517506
gwascentralrs1057517506
openSNPrs1057517506
23andMers1057517506
23andMe allrs1057517506
SNPshotrs1057517506
SNPdbers1057517506
MSV3drs1057517506
GWAS Ctlgrs1057517506
Max Magnitude0
ClinVar
Risk rs1057517506(C;C)
Alt rs1057517506(C;C)
Reference Rs1057517506(-;-)
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.92147496dupG
CLNSRC
CLNACC RCV000410137.1, RCV000412173.1,