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rs1057517531

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517531(A;G)
Make rs1057517531(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92494398
GeneGATAD1, PEX1
is asnp
is mentioned by
dbSNPrs1057517531
dbSNP (old)rs1057517531
ClinGenrs1057517531
ebirs1057517531
HLIrs1057517531
Exacrs1057517531
Gnomadrs1057517531
Varsomers1057517531
Maprs1057517531
PheGenIrs1057517531
Biobankrs1057517531
1000 genomesrs1057517531
hgdprs1057517531
ensemblrs1057517531
gopubmedrs1057517531
geneviewrs1057517531
scholarrs1057517531
googlers1057517531
pharmgkbrs1057517531
gwascentralrs1057517531
openSNPrs1057517531
23andMers1057517531
23andMe allrs1057517531
SNPshotrs1057517531
SNPdbers1057517531
MSV3drs1057517531
GWAS Ctlgrs1057517531
Max Magnitude0
ClinVar
Risk rs1057517531(G;G)
Alt rs1057517531(G;G)
Reference Rs1057517531(A;A)
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.92123712T>C
CLNSRC
CLNACC RCV000410270.1, RCV000412213.1,