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rs1057517490

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517490(G;T)
Make rs1057517490(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92509328
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517490
dbSNP (old)rs1057517490
ClinGenrs1057517490
ebirs1057517490
HLIrs1057517490
Exacrs1057517490
Gnomadrs1057517490
Varsomers1057517490
LitVarrs1057517490
Maprs1057517490
PheGenIrs1057517490
Biobankrs1057517490
1000 genomesrs1057517490
hgdprs1057517490
ensemblrs1057517490
gopubmedrs1057517490
geneviewrs1057517490
scholarrs1057517490
googlers1057517490
pharmgkbrs1057517490
gwascentralrs1057517490
openSNPrs1057517490
23andMers1057517490
23andMe allrs1057517490
SNPshotrs1057517490
SNPdbers1057517490
MSV3drs1057517490
GWAS Ctlgrs1057517490
Max Magnitude0
ClinVar
Risk rs1057517490(A;A) rs1057517490(T;T)
Alt rs1057517490(A;A) rs1057517490(T;T)
Reference Rs1057517490(G;G)
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.92138642C>A; NC_000007.13:g.92138642C>T
CLNSRC
CLNACC RCV000410364.1, RCV000411848.1, RCV000409269.1, RCV000411209.1,