PLA2G6, phospholipase A2 group VI, 8398

N. diseases: 350; N. variants: 102
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: rs587784327
rs587784327 		1.000 0.040 22 38129523 missense variant C/T snv
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.710 1.000 6 2009 2017
dbSNP: rs587784339
rs587784339 		1.000 0.040 22 38115658 stop gained G/A snv 4.8E-05 7.0E-06
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.700 1.000 4 2006 2015
dbSNP: rs121908682
rs121908682 		1.000 0.040 22 38132979 missense variant A/T snv 1.1E-05
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.800 1.000 3 2006 2013
dbSNP: rs200075782
rs200075782 		1.000 0.040 22 38169318 stop gained G/A snv 3.6E-05 1.4E-05
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.700 1.000 3 2006 2010
dbSNP: rs767689496
rs767689496 		1.000 0.040 22 38115579 missense variant G/A snv 8.0E-06
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.700 1.000 3 2006 2013
dbSNP: rs1165966405
rs1165966405 		1.000 0.080 22 38169236 missense variant T/A;C snv 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1171614044
rs1171614044 		1.000 0.040 22 38112243 missense variant T/C;G snv
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs132941
rs132941 		1.000 0.040 22 38149935 non coding transcript exon variant T/A;C snv
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs132984
rs132984 		1.000 0.080 22 38167290 intron variant C/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs139093920
rs139093920 		1.000 0.040 22 38112241 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs140758033
rs140758033 		1.000 0.040 22 38112165 missense variant G/C snv 8.6E-04 2.5E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs1431221552
rs1431221552 		1.000 0.040 22 38132989 missense variant C/A;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1461947940
rs1461947940 		1.000 0.040 22 38115615 missense variant C/T snv
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2284060
rs2284060 		1.000 0.080 22 38147446 3 prime UTR variant T/C snv 0.42
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs370975770
rs370975770 		1.000 0.080 22 38115666 missense variant C/T snv 8.9E-06 2.8E-05
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs376497527
rs376497527 		1.000 0.080 22 38129537 missense variant G/C snv 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs4820318
rs4820318 		1.000 0.080 22 38174306 intron variant G/A snv 0.39
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs738321
rs738321 		1.000 0.080 22 38172826 intron 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: rs764959600
rs764959600 		1.000 0.040 22 38169424 start lost C/A;T snv 4.0E-06
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs764959600
rs764959600 		1.000 0.040 22 38169424 start lost C/A;T snv 4.0E-06
CUI: C0030552
Disease: Paresis
Paresis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs764959600
rs764959600 		1.000 0.040 22 38169424 start lost C/A;T snv 4.0E-06
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs766760828
rs766760828 		1.000 0.080 22 38140060 missense variant A/G snv 4.0E-06
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs780116189
rs780116189 		1.000 0.040 22 38132958 missense variant C/A;T snv
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs84473
rs84473 		1.000 0.040 22 38161319 intron variant T/C snv 0.52
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs1465629909
rs1465629909 		1.000 0.040 22 38120911 splice acceptor variant T/G snv 4.0E-06
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.700 0