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rs1057517520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517520(-;-)
Make rs1057517520(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92517360
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517520
dbSNP (old)rs1057517520
ClinGenrs1057517520
ebirs1057517520
HLIrs1057517520
Exacrs1057517520
Gnomadrs1057517520
Varsomers1057517520
Maprs1057517520
PheGenIrs1057517520
Biobankrs1057517520
1000 genomesrs1057517520
hgdprs1057517520
ensemblrs1057517520
gopubmedrs1057517520
geneviewrs1057517520
scholarrs1057517520
googlers1057517520
pharmgkbrs1057517520
gwascentralrs1057517520
openSNPrs1057517520
23andMers1057517520
23andMe allrs1057517520
SNPshotrs1057517520
SNPdbers1057517520
MSV3drs1057517520
GWAS Ctlgrs1057517520
Max Magnitude0
ClinVar
Risk rs1057517520(-;-)
Alt rs1057517520(-;-)
Reference Rs1057517520(A;A)
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.92146674delT
CLNSRC
CLNACC RCV000409164.1, RCV000410303.1,