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rs1057517487

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517487(A;A)
Make rs1057517487(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92519004
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517487
dbSNP (old)rs1057517487
ClinGenrs1057517487
ebirs1057517487
HLIrs1057517487
Exacrs1057517487
Gnomadrs1057517487
Varsomers1057517487
Maprs1057517487
PheGenIrs1057517487
Biobankrs1057517487
1000 genomesrs1057517487
hgdprs1057517487
ensemblrs1057517487
gopubmedrs1057517487
geneviewrs1057517487
scholarrs1057517487
googlers1057517487
pharmgkbrs1057517487
gwascentralrs1057517487
openSNPrs1057517487
23andMers1057517487
23andMe allrs1057517487
SNPshotrs1057517487
SNPdbers1057517487
MSV3drs1057517487
GWAS Ctlgrs1057517487
Max Magnitude0
ClinVar
Risk rs1057517487(A;A)
Alt rs1057517487(A;A)
Reference Rs1057517487(G;G)
Significance Probable-Pathogenic
Disease Peroxisome biogenesis disorder 1B Zellweger syndrome
Variation info
Gene PEX1
CLNDBN Peroxisome biogenesis disorder 1B Zellweger syndrome
Reversed 1
HGVS NC_000007.13:g.92148318C>T
CLNSRC
CLNACC RCV000409324.1, RCV000411341.1,