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rs1057517469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517469(A;A)
Make rs1057517469(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92510943
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517469
dbSNP (old)rs1057517469
ClinGenrs1057517469
ebirs1057517469
HLIrs1057517469
Exacrs1057517469
Gnomadrs1057517469
Varsomers1057517469
LitVarrs1057517469
Maprs1057517469
PheGenIrs1057517469
Biobankrs1057517469
1000 genomesrs1057517469
hgdprs1057517469
ensemblrs1057517469
gopubmedrs1057517469
geneviewrs1057517469
scholarrs1057517469
googlers1057517469
pharmgkbrs1057517469
gwascentralrs1057517469
openSNPrs1057517469
23andMers1057517469
23andMe allrs1057517469
SNPshotrs1057517469
SNPdbers1057517469
MSV3drs1057517469
GWAS Ctlgrs1057517469
Max Magnitude0
ClinVar
Risk rs1057517469(A;A)
Alt rs1057517469(A;A)
Reference Rs1057517469(G;G)
Significance Probable-Pathogenic
Disease Peroxisome biogenesis disorder 1B Zellweger syndrome
Variation info
Gene PEX1
CLNDBN Peroxisome biogenesis disorder 1B Zellweger syndrome
Reversed 1
HGVS NC_000007.13:g.92140257C>T
CLNSRC
CLNACC RCV000409309.1, RCV000411742.1,