Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517479

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517479(G;T)
Make rs1057517479(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92518256
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517479
dbSNP (old)rs1057517479
ClinGenrs1057517479
ebirs1057517479
HLIrs1057517479
Exacrs1057517479
Gnomadrs1057517479
Varsomers1057517479
Maprs1057517479
PheGenIrs1057517479
Biobankrs1057517479
1000 genomesrs1057517479
hgdprs1057517479
ensemblrs1057517479
gopubmedrs1057517479
geneviewrs1057517479
scholarrs1057517479
googlers1057517479
pharmgkbrs1057517479
gwascentralrs1057517479
openSNPrs1057517479
23andMers1057517479
23andMe allrs1057517479
SNPshotrs1057517479
SNPdbers1057517479
MSV3drs1057517479
GWAS Ctlgrs1057517479
Max Magnitude0
ClinVar
Risk rs1057517479(T;T)
Alt rs1057517479(T;T)
Reference Rs1057517479(G;G)
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.92147570C>A
CLNSRC
CLNACC RCV000409170.1, RCV000410312.1,