PRKD2, protein kinase D2, 25865

N. diseases: 40; N. variants: 12
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: rs11083846
rs11083846 		0.882 0.200 19 46704397 splice region variant G/A snv 0.17 0.16
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.830 1.000 3 2008 2010
dbSNP: rs425105
rs425105 		0.925 0.160 19 46705224 intron variant T/C snv 0.15
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 1 2009 2009
dbSNP: rs60652743
rs60652743 		0.925 0.040 19 46702450 intron variant A/G snv 0.16
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 2 2013 2017
dbSNP: rs11083846
rs11083846 		0.882 0.200 19 46704397 splice region variant G/A snv 0.17 0.16
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs11083846
rs11083846 		0.882 0.200 19 46704397 splice region variant G/A snv 0.17 0.16
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs114855972
rs114855972 		19 46691629 intron variant G/A snv 1.1E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs115824942
rs115824942 		19 46705125 intron variant G/T snv 1.0E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs138814219
rs138814219 		19 46693389 intron variant C/T snv 1.0E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs139399000
rs139399000 		19 46701184 intron variant C/A;G snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs147565295
rs147565295 		19 46691998 intron variant G/A snv 2.5E-03 1.1E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs151060619
rs151060619 		19 46710054 intron variant C/A;T snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs402072
rs402072 		1.000 0.120 19 46715865 intron variant T/C snv 0.12
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs425105
rs425105 		0.925 0.160 19 46705224 intron variant T/C snv 0.15
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs60652743
rs60652743 		0.925 0.040 19 46702450 intron variant A/G snv 0.16
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		Digestive System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs75185364
rs75185364 		19 46689684 synonymous variant G/A;C snv 4.0E-05; 2.5E-03
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs772173802
rs772173802 		0.925 19 46674559 missense variant G/T snv 4.0E-06
CUI: C1334768
Disease: Minor Salivary Gland Adenocarcinoma
Minor Salivary Gland Adenocarcinoma 		0.010 1.000 1 2020 2020
dbSNP: rs772173802
rs772173802 		0.925 19 46674559 missense variant G/T snv 4.0E-06
CUI: C1266086
Disease: Polymorphous low grade adenocarcinoma
Polymorphous low grade adenocarcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs772173802
rs772173802 		0.925 19 46674559 missense variant G/T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019