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rs1057517497

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517497(-;-)
Make rs1057517497(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92511004
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517497
dbSNP (old)rs1057517497
ClinGenrs1057517497
ebirs1057517497
HLIrs1057517497
Exacrs1057517497
Gnomadrs1057517497
Varsomers1057517497
Maprs1057517497
PheGenIrs1057517497
Biobankrs1057517497
1000 genomesrs1057517497
hgdprs1057517497
ensemblrs1057517497
gopubmedrs1057517497
geneviewrs1057517497
scholarrs1057517497
googlers1057517497
pharmgkbrs1057517497
gwascentralrs1057517497
openSNPrs1057517497
23andMers1057517497
23andMe allrs1057517497
SNPshotrs1057517497
SNPdbers1057517497
MSV3drs1057517497
GWAS Ctlgrs1057517497
Max Magnitude0
ClinVar
Risk rs1057517497(-;-)
Alt rs1057517497(-;-)
Reference Rs1057517497(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.92140318delT
CLNSRC
CLNACC RCV000411168.1, RCV000412257.1,