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rs794729652

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794729652(-;-)
Make rs794729652(-;C)
Make rs794729652(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position92491330
GeneGATAD1, PEX1
is asnp
is mentioned by
dbSNPrs794729652
ebirs794729652
HLIrs794729652
Exacrs794729652
Varsomers794729652
Maprs794729652
PheGenIrs794729652
hapmaprs794729652
1000 genomesrs794729652
hgdprs794729652
ensemblrs794729652
gopubmedrs794729652
geneviewrs794729652
scholarrs794729652
googlers794729652
pharmgkbrs794729652
gwascentralrs794729652
openSNPrs794729652
23andMers794729652
23andMe allrs794729652
SNP Nexus

SNPshotrs794729652
SNPdbers794729652
MSV3drs794729652
GWAS Ctlgrs794729652
Max Magnitude0
ClinVar
Risk rs794729652(C;C)
Alt rs794729652(C;C)
Reference rs794729652(;)
Significance 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.92120645dupG
CLNSRC
CLNACC RCV000185568.2, RCV000185569.2,