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rs1057517481

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517481(C;T)
Make rs1057517481(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92494538
GeneGATAD1, PEX1
is asnp
is mentioned by
dbSNPrs1057517481
dbSNP (old)rs1057517481
ClinGenrs1057517481
ebirs1057517481
HLIrs1057517481
Exacrs1057517481
Gnomadrs1057517481
Varsomers1057517481
Maprs1057517481
PheGenIrs1057517481
Biobankrs1057517481
1000 genomesrs1057517481
hgdprs1057517481
ensemblrs1057517481
gopubmedrs1057517481
geneviewrs1057517481
scholarrs1057517481
googlers1057517481
pharmgkbrs1057517481
gwascentralrs1057517481
openSNPrs1057517481
23andMers1057517481
23andMe allrs1057517481
SNPshotrs1057517481
SNPdbers1057517481
MSV3drs1057517481
GWAS Ctlgrs1057517481
Max Magnitude0
ClinVar
Risk rs1057517481(T;T)
Alt rs1057517481(T;T)
Reference Rs1057517481(C;C)
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.92123852G>A
CLNSRC
CLNACC RCV000410455.1, RCV000411996.1,