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rs267608180

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608180(C;C)
Make rs267608180(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position92494485
GeneGATAD1, PEX1
is asnp
is mentioned by
dbSNPrs267608180
dbSNP (classic)rs267608180
ClinGenrs267608180
ebirs267608180
HLIrs267608180
Exacrs267608180
Gnomadrs267608180
Varsomers267608180
LitVarrs267608180
Maprs267608180
PheGenIrs267608180
Biobankrs267608180
1000 genomesrs267608180
hgdprs267608180
ensemblrs267608180
geneviewrs267608180
scholarrs267608180
googlers267608180
pharmgkbrs267608180
gwascentralrs267608180
openSNPrs267608180
23andMers267608180
SNPshotrs267608180
SNPdbers267608180
MSV3drs267608180
GWAS Ctlgrs267608180
Max Magnitude0
ClinVar
Risk rs267608180(C;C)
Alt rs267608180(C;C)
Reference Rs267608180(T;T)
Significance Probable-Pathogenic
Disease Zellweger syndrome
Variation info
Gene PEX1
CLNDBN Zellweger syndrome
Reversed 1
HGVS NC_000007.13:g.92123799A>G
CLNSRC
CLNACC RCV000169385.1,