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rs1057517476

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517476(C;C)
Make rs1057517476(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position92522246
GenePEX1
is asnp
is mentioned by
dbSNPrs1057517476
dbSNP (old)rs1057517476
ClinGenrs1057517476
ebirs1057517476
HLIrs1057517476
Exacrs1057517476
Gnomadrs1057517476
Varsomers1057517476
Maprs1057517476
PheGenIrs1057517476
Biobankrs1057517476
1000 genomesrs1057517476
hgdprs1057517476
ensemblrs1057517476
gopubmedrs1057517476
geneviewrs1057517476
scholarrs1057517476
googlers1057517476
pharmgkbrs1057517476
gwascentralrs1057517476
openSNPrs1057517476
23andMers1057517476
23andMe allrs1057517476
SNPshotrs1057517476
SNPdbers1057517476
MSV3drs1057517476
GWAS Ctlgrs1057517476
Max Magnitude0
ClinVar
Risk rs1057517476(C;C)
Alt rs1057517476(C;C)
Reference Rs1057517476(G;G)
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.92151560C>G
CLNSRC
CLNACC RCV000411284.1, RCV000412347.1,