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rs1057517499

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TACTT;TACTT) 0 common in clinvar
Make rs1057517499(-;-)
Make rs1057517499(-;TACTT)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92503101
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517499
dbSNP (old)rs1057517499
ClinGenrs1057517499
ebirs1057517499
HLIrs1057517499
Exacrs1057517499
Gnomadrs1057517499
Varsomers1057517499
Maprs1057517499
PheGenIrs1057517499
Biobankrs1057517499
1000 genomesrs1057517499
hgdprs1057517499
ensemblrs1057517499
gopubmedrs1057517499
geneviewrs1057517499
scholarrs1057517499
googlers1057517499
pharmgkbrs1057517499
gwascentralrs1057517499
openSNPrs1057517499
23andMers1057517499
23andMe allrs1057517499
SNPshotrs1057517499
SNPdbers1057517499
MSV3drs1057517499
GWAS Ctlgrs1057517499
Max Magnitude0
ClinVar
Risk rs1057517499(-;-)
Alt rs1057517499(-;-)
Reference Rs1057517499(TACTT;TACTT)
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.92132415_92132419delAAGTA
CLNSRC
CLNACC RCV000410634.1, RCV000411755.1,