PEX14, peroxisomal biogenesis factor 14, 5195

N. diseases: 133; N. variants: 19
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142020459
rs142020459
1.000 0.080 1 10512026 intron variant C/G snv 1.8E-02
CUI: C0002170
Disease: Alopecia
Alopecia
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs17035390
rs17035390
1.000 0.080 1 10593565 intron variant T/C snv 3.6E-02
CUI: C0002170
Disease: Alopecia
Alopecia
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2242288
rs2242288
1.000 0.080 1 10624041 intron variant C/A snv 4.6E-02
CUI: C0002170
Disease: Alopecia
Alopecia
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017