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rs1057517509

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs1057517509(-;-)
Make rs1057517509(-;AA)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92491472
GeneGATAD1, PEX1
is asnp
is mentioned by
dbSNPrs1057517509
dbSNP (old)rs1057517509
ClinGenrs1057517509
ebirs1057517509
HLIrs1057517509
Exacrs1057517509
Gnomadrs1057517509
Varsomers1057517509
Maprs1057517509
PheGenIrs1057517509
Biobankrs1057517509
1000 genomesrs1057517509
hgdprs1057517509
ensemblrs1057517509
gopubmedrs1057517509
geneviewrs1057517509
scholarrs1057517509
googlers1057517509
pharmgkbrs1057517509
gwascentralrs1057517509
openSNPrs1057517509
23andMers1057517509
23andMe allrs1057517509
SNPshotrs1057517509
SNPdbers1057517509
MSV3drs1057517509
GWAS Ctlgrs1057517509
Max Magnitude0
ClinVar
Risk rs1057517509(-;-)
Alt rs1057517509(-;-)
Reference Rs1057517509(AA;AA)
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.92120786_92120787delTT
CLNSRC
CLNACC RCV000410422.1, RCV000411933.1,