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rs1057517470

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517470(C;T)
Make rs1057517470(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92499805
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517470
dbSNP (old)rs1057517470
ClinGenrs1057517470
ebirs1057517470
HLIrs1057517470
Exacrs1057517470
Gnomadrs1057517470
Varsomers1057517470
LitVarrs1057517470
Maprs1057517470
PheGenIrs1057517470
Biobankrs1057517470
1000 genomesrs1057517470
hgdprs1057517470
ensemblrs1057517470
gopubmedrs1057517470
geneviewrs1057517470
scholarrs1057517470
googlers1057517470
pharmgkbrs1057517470
gwascentralrs1057517470
openSNPrs1057517470
23andMers1057517470
23andMe allrs1057517470
SNPshotrs1057517470
SNPdbers1057517470
MSV3drs1057517470
GWAS Ctlgrs1057517470
Max Magnitude0
ClinVar
Risk rs1057517470(T;T)
Alt rs1057517470(T;T)
Reference Rs1057517470(C;C)
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.92129119G>A
CLNSRC
CLNACC RCV000409499.1, RCV000411020.1,