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rs104894616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894616(A;T)
Make rs104894616(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position35576171
GenePEX12
is asnp
is mentioned by
dbSNPrs104894616
ebirs104894616
HLIrs104894616
Exacrs104894616
Varsomers104894616
Maprs104894616
PheGenIrs104894616
hapmaprs104894616
1000 genomesrs104894616
hgdprs104894616
ensemblrs104894616
gopubmedrs104894616
geneviewrs104894616
scholarrs104894616
googlers104894616
pharmgkbrs104894616
gwascentralrs104894616
openSNPrs104894616
23andMers104894616
23andMe allrs104894616
SNP Nexus

SNPshotrs104894616
SNPdbers104894616
MSV3drs104894616
GWAS Ctlgrs104894616
Max Magnitude0
OMIM601758
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894616(T;T)
Alt rs104894616(T;T)
Reference rs104894616(A;A)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 3A
Variation info
Gene PEX12
CLNDBN Peroxisome biogenesis disorder 3A
Reversed 1
HGVS NC_000017.10:g.33903190T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008215.2,