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rs1057517472

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517472(-;T)
Make rs1057517472(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92494553
GeneGATAD1, PEX1
is asnp
is mentioned by
dbSNPrs1057517472
dbSNP (old)rs1057517472
ClinGenrs1057517472
ebirs1057517472
HLIrs1057517472
Exacrs1057517472
Gnomadrs1057517472
Varsomers1057517472
Maprs1057517472
PheGenIrs1057517472
Biobankrs1057517472
1000 genomesrs1057517472
hgdprs1057517472
ensemblrs1057517472
gopubmedrs1057517472
geneviewrs1057517472
scholarrs1057517472
googlers1057517472
pharmgkbrs1057517472
gwascentralrs1057517472
openSNPrs1057517472
23andMers1057517472
23andMe allrs1057517472
SNPshotrs1057517472
SNPdbers1057517472
MSV3drs1057517472
GWAS Ctlgrs1057517472
Max Magnitude0
ClinVar
Risk rs1057517472(T;T)
Alt rs1057517472(T;T)
Reference Rs1057517472(-;-)
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.92123868dupA
CLNSRC
CLNACC RCV000409040.1, RCV000410568.1,