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rs1057517522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517522(-;-)
Make rs1057517522(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92517781
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517522
dbSNP (old)rs1057517522
ClinGenrs1057517522
ebirs1057517522
HLIrs1057517522
Exacrs1057517522
Gnomadrs1057517522
Varsomers1057517522
LitVarrs1057517522
Maprs1057517522
PheGenIrs1057517522
Biobankrs1057517522
1000 genomesrs1057517522
hgdprs1057517522
ensemblrs1057517522
gopubmedrs1057517522
geneviewrs1057517522
scholarrs1057517522
googlers1057517522
pharmgkbrs1057517522
gwascentralrs1057517522
openSNPrs1057517522
23andMers1057517522
23andMe allrs1057517522
SNPshotrs1057517522
SNPdbers1057517522
MSV3drs1057517522
GWAS Ctlgrs1057517522
Max Magnitude0
ClinVar
Risk rs1057517522(-;-)
Alt rs1057517522(-;-)
Reference Rs1057517522(T;T)
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.92147095delA
CLNSRC
CLNACC RCV000410891.1, RCV000411994.1,