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rs1057517505

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517505(-;TATA)
Make rs1057517505(TATA;TATA)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92517619
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517505
dbSNP (old)rs1057517505
ClinGenrs1057517505
ebirs1057517505
HLIrs1057517505
Exacrs1057517505
Gnomadrs1057517505
Varsomers1057517505
LitVarrs1057517505
Maprs1057517505
PheGenIrs1057517505
Biobankrs1057517505
1000 genomesrs1057517505
hgdprs1057517505
ensemblrs1057517505
gopubmedrs1057517505
geneviewrs1057517505
scholarrs1057517505
googlers1057517505
pharmgkbrs1057517505
gwascentralrs1057517505
openSNPrs1057517505
23andMers1057517505
23andMe allrs1057517505
SNPshotrs1057517505
SNPdbers1057517505
MSV3drs1057517505
GWAS Ctlgrs1057517505
Max Magnitude0
ClinVar
Risk rs1057517505(TATA;TATA)
Alt rs1057517505(TATA;TATA)
Reference Rs1057517505(-;-)
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.92146934_92146937dupTATA
CLNSRC
CLNACC RCV000409956.1, RCV000411093.1,