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rs1057517500

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517500(A;G)
Make rs1057517500(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92518257
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517500
dbSNP (old)rs1057517500
ClinGenrs1057517500
ebirs1057517500
HLIrs1057517500
Exacrs1057517500
Gnomadrs1057517500
Varsomers1057517500
Maprs1057517500
PheGenIrs1057517500
Biobankrs1057517500
1000 genomesrs1057517500
hgdprs1057517500
ensemblrs1057517500
gopubmedrs1057517500
geneviewrs1057517500
scholarrs1057517500
googlers1057517500
pharmgkbrs1057517500
gwascentralrs1057517500
openSNPrs1057517500
23andMers1057517500
23andMe allrs1057517500
SNPshotrs1057517500
SNPdbers1057517500
MSV3drs1057517500
GWAS Ctlgrs1057517500
Max Magnitude0
ClinVar
Risk rs1057517500(G;G)
Alt rs1057517500(G;G)
Reference Rs1057517500(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.92147571T>C
CLNSRC
CLNACC RCV000409764.1, RCV000410357.1,