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rs1057517467

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517467(C;T)
Make rs1057517467(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92489776
GeneGATAD1, PEX1
is asnp
is mentioned by
dbSNPrs1057517467
dbSNP (old)rs1057517467
ClinGenrs1057517467
ebirs1057517467
HLIrs1057517467
Exacrs1057517467
Gnomadrs1057517467
Varsomers1057517467
LitVarrs1057517467
Maprs1057517467
PheGenIrs1057517467
Biobankrs1057517467
1000 genomesrs1057517467
hgdprs1057517467
ensemblrs1057517467
gopubmedrs1057517467
geneviewrs1057517467
scholarrs1057517467
googlers1057517467
pharmgkbrs1057517467
gwascentralrs1057517467
openSNPrs1057517467
23andMers1057517467
23andMe allrs1057517467
SNPshotrs1057517467
SNPdbers1057517467
MSV3drs1057517467
GWAS Ctlgrs1057517467
Max Magnitude0
ClinVar
Risk rs1057517467(T;T)
Alt rs1057517467(T;T)
Reference Rs1057517467(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.92119090G>A
CLNSRC
CLNACC RCV000409527.1, RCV000411053.1,