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rs1057517488

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs1057517488(-;-)
Make rs1057517488(-;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92517440
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517488
dbSNP (old)rs1057517488
ClinGenrs1057517488
ebirs1057517488
HLIrs1057517488
Exacrs1057517488
Gnomadrs1057517488
Varsomers1057517488
Maprs1057517488
PheGenIrs1057517488
Biobankrs1057517488
1000 genomesrs1057517488
hgdprs1057517488
ensemblrs1057517488
gopubmedrs1057517488
geneviewrs1057517488
scholarrs1057517488
googlers1057517488
pharmgkbrs1057517488
gwascentralrs1057517488
openSNPrs1057517488
23andMers1057517488
23andMe allrs1057517488
SNPshotrs1057517488
SNPdbers1057517488
MSV3drs1057517488
GWAS Ctlgrs1057517488
Max Magnitude0
ClinVar
Risk rs1057517488(-;-)
Alt rs1057517488(-;-)
Reference Rs1057517488(GA;GA)
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.92146754_92146755delTC
CLNSRC
CLNACC RCV000409070.1, RCV000410602.1,