PEX12, peroxisomal biogenesis factor 12, 5193

N. diseases: 126; N. variants: 41
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894616
rs104894616
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519507
rs1057519507
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
AAT 0.700 CausalMutation CLINVAR
dbSNP: rs1199283977
rs1199283977
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1199283977
rs1199283977
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1214971073
rs1214971073
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1214971073
rs1214971073
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1238451790
rs1238451790
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B
TGTGCTACC 0.700 GeneticVariation CLINVAR
dbSNP: rs1238451790
rs1238451790
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
TGTGCTACC 0.700 GeneticVariation CLINVAR
dbSNP: rs147530802
rs147530802
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
0.700 GeneticVariation UNIPROT
dbSNP: rs1555549754
rs1555549754
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549754
rs1555549754
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549769
rs1555549769
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549769
rs1555549769
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549841
rs1555549841
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549841
rs1555549841
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549862
rs1555549862
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
TTC 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549862
rs1555549862
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B
TTC 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549876
rs1555549876
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549876
rs1555549876
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549902
rs1555549902
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549902
rs1555549902
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549909
rs1555549909
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549909
rs1555549909
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549923
rs1555549923
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555549923
rs1555549923
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B
C 0.700 GeneticVariation CLINVAR