FAP, fibroblast activation protein alpha, 2191

N. diseases: 216; N. variants: 7
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: rs2075302
rs2075302 		0.882 2 162219636 intron variant T/C snv 0.34
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2075302
rs2075302 		0.882 2 162219636 intron variant T/C snv 0.34
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2075302
rs2075302 		0.882 2 162219636 intron variant T/C snv 0.34
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs2075302
rs2075302 		0.882 2 162219636 intron variant T/C snv 0.34
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs2075302
rs2075302 		0.882 2 162219636 intron variant T/C snv 0.34
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs3788967
rs3788967 		2 162241460 intron variant G/A snv 5.0E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs77335736
rs77335736 		2 162233356 intron variant C/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1270939186
rs1270939186 		2 162174894 missense variant C/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1335856860
rs1335856860 		0.925 0.120 2 162183437 missense variant T/C snv 7.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1335856860
rs1335856860 		0.925 0.120 2 162183437 missense variant T/C snv 7.0E-06
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.010 1.000 1 2016 2016
dbSNP: rs13422767
rs13422767 		0.882 0.120 2 162243749 intron variant G/A snv 0.14
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs13422767
rs13422767 		0.882 0.120 2 162243749 intron variant G/A snv 0.14
CUI: C2103602
Disease: Autoimmune Primary Adrenal Insufficiency
Autoimmune Primary Adrenal Insufficiency 		Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs13422767
rs13422767 		0.882 0.120 2 162243749 intron variant G/A snv 0.14
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs946880677
rs946880677 		0.882 0.080 2 162224488 missense variant T/C snv
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs946880677
rs946880677 		0.882 0.080 2 162224488 missense variant T/C snv
CUI: C0007682
Disease: CNS disorder
CNS disorder 		Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs946880677
rs946880677 		0.882 0.080 2 162224488 missense variant T/C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs946880677
rs946880677 		0.882 0.080 2 162224488 missense variant T/C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2005 2005