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rs1057517484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517484(-;A)
Make rs1057517484(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92494614
GeneGATAD1, PEX1
is asnp
is mentioned by
dbSNPrs1057517484
dbSNP (old)rs1057517484
ClinGenrs1057517484
ebirs1057517484
HLIrs1057517484
Exacrs1057517484
Gnomadrs1057517484
Varsomers1057517484
Maprs1057517484
PheGenIrs1057517484
Biobankrs1057517484
1000 genomesrs1057517484
hgdprs1057517484
ensemblrs1057517484
gopubmedrs1057517484
geneviewrs1057517484
scholarrs1057517484
googlers1057517484
pharmgkbrs1057517484
gwascentralrs1057517484
openSNPrs1057517484
23andMers1057517484
23andMe allrs1057517484
SNPshotrs1057517484
SNPdbers1057517484
MSV3drs1057517484
GWAS Ctlgrs1057517484
Max Magnitude0
ClinVar
Risk rs1057517484(A;A)
Alt rs1057517484(A;A)
Reference Rs1057517484(-;-)
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.92123929dupT
CLNSRC
CLNACC RCV000409714.1, RCV000410777.1,