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rs749067142

From SNPedia

Orientationplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs749067142(-;-)
Make rs749067142(-;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position92517732
GenePEX1
is asnp
is mentioned by
dbSNPrs749067142
ebirs749067142
HLIrs749067142
Exacrs749067142
Varsomers749067142
Maprs749067142
PheGenIrs749067142
hapmaprs749067142
1000 genomesrs749067142
hgdprs749067142
ensemblrs749067142
gopubmedrs749067142
geneviewrs749067142
scholarrs749067142
googlers749067142
pharmgkbrs749067142
gwascentralrs749067142
openSNPrs749067142
23andMers749067142
23andMe allrs749067142
SNP Nexus

SNPshotrs749067142
SNPdbers749067142
MSV3drs749067142
GWAS Ctlgrs749067142
Max Magnitude0
ClinVar
Risk rs749067142(;)
Alt rs749067142(;)
Reference rs749067142(TT;TT)
Significance Probable-Pathogenic
Disease Zellweger syndrome
Variation info
Gene PEX1
CLNDBN Zellweger syndrome
Reversed 0
HGVS NC_000007.13:g.92147046_92147047delTT
CLNSRC
CLNACC RCV000169270.1,