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: rs2056417
rs2056417 		1 10521601 intron variant G/A snv 0.25
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs616488
rs616488 		0.925 0.080 1 10506158 intron variant A/G snv 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 5 2013 2017
dbSNP: rs616488
rs616488 		0.925 0.080 1 10506158 intron variant A/G snv 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 3 2013 2016
dbSNP: rs636291
rs636291 		0.925 0.080 1 10496040 intron variant G/A snv 0.55
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.710 1.000 3 2014 2018
dbSNP: rs10864459
rs10864459 		1.000 0.080 1 10503552 intron variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10864462
rs10864462 		1 10552101 intron variant A/T snv 0.11
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs12045923
rs12045923 		1 10583772 intron variant C/G;T snv
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1411402
rs1411402 		1 10519488 intron variant G/T snv 0.25
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
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
dbSNP: rs2483677
rs2483677 		1 10520834 intron variant C/T snv 0.24
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2506889
rs2506889 		1.000 0.080 1 10535965 non coding transcript exon variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2847344
rs2847344 		1 10504618 intron variant G/A snv 0.69
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs616402
rs616402 		1 10506215 intron variant C/T snv 0.29
CUI: C0425782
Disease: Breast size
Breast size 		0.700 1.000 1 2016 2016
dbSNP: rs616402
rs616402 		1 10506215 intron variant C/T snv 0.29
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs648324
rs648324 		1 10496390 intron variant G/C;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs648324
rs648324 		1 10496390 intron variant G/C;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs662064
rs662064 		1.000 0.080 1 10497194 intron variant T/C snv 0.66
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6687430
rs6687430 		1 10573188 intron variant G/A snv 0.48
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs6687430
rs6687430 		1 10573188 intron variant G/A snv 0.48
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs668805
rs668805 		1 10484490 intron variant G/A snv 0.75
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs61752116
rs61752116 		1.000 1 10624405 stop gained C/T snv
CUI: C3554004
Disease: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 		0.700 0
dbSNP: rs636291
rs636291 		0.925 0.080 1 10496040 intron variant G/A snv 0.55
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2018 2018