LRRK2, leucine rich repeat kinase 2, 120892

N. diseases: 231; N. variants: 74
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: rs199566791
rs199566791
1.000 12 40278154 missense variant A/G snv
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.700 1.000 21 2004 2018
dbSNP: rs34805604
rs34805604
1.000 12 40299125 missense variant A/G snv
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.800 1.000 21 2004 2018
dbSNP: rs34995376
rs34995376
0.807 0.080 12 40310435 missense variant G/A snv 7.0E-06
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.800 1.000 21 2004 2018
dbSNP: rs35801418
rs35801418
0.827 0.120 12 40321114 missense variant A/G snv
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.800 1.000 21 2004 2018
dbSNP: rs35870237
rs35870237
0.763 0.120 12 40340404 missense variant T/C snv
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.800 1.000 21 2004 2018
dbSNP: rs34995376
rs34995376
0.807 0.080 12 40310435 missense variant G/A snv 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.070 1.000 7 2005 2017
dbSNP: rs1491942
rs1491942
1.000 0.040 12 40227006 intron variant C/G snv 0.23
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.800 1.000 4 2011 2014
dbSNP: rs35870237
rs35870237
0.763 0.120 12 40340404 missense variant T/C snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.040 1.000 4 2006 2014
dbSNP: rs74163686
rs74163686
0.925 0.040 12 40309225 missense variant A/C snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.040 1.000 4 2010 2019
dbSNP: rs11175593
rs11175593
0.882 0.160 12 40208138 non coding transcript exon variant C/T snv 2.8E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.820 1.000 3 2008 2013
dbSNP: rs35801418
rs35801418
0.827 0.120 12 40321114 missense variant A/G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.030 1.000 3 2010 2018
dbSNP: rs76904798
rs76904798
0.925 0.080 12 40220632 intron variant C/T snv 0.13
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.710 1.000 3 2014 2017
dbSNP: rs28903073
rs28903073
1.000 0.040 12 40259708 intron variant G/A snv 2.4E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.800 1.000 2 2011 2016
dbSNP: rs35870237
rs35870237
0.763 0.120 12 40340404 missense variant T/C snv
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1
Nervous System Diseases 0.020 1.000 2 2009 2009
dbSNP: rs10878226
rs10878226
1.000 0.040 12 40223890 non coding transcript exon variant G/A;C snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11175593
rs11175593
0.882 0.160 12 40208138 non coding transcript exon variant C/T snv 2.8E-02
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11175593
rs11175593
0.882 0.160 12 40208138 non coding transcript exon variant C/T snv 2.8E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11564273
rs11564273
1.000 0.040 12 40204350 intron variant T/G snv 6.5E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs117762348
rs117762348
1.000 0.040 12 40203810 non coding transcript exon variant A/G snv 6.5E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs148319899
rs148319899
1.000 0.040 12 40346421 intron variant T/C snv 3.0E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs148319899
rs148319899
1.000 0.040 12 40346421 intron variant T/C snv 3.0E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1491923
rs1491923
1.000 0.040 12 40197315 intron variant A/G snv 0.35
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs17466626
rs17466626
0.724 0.240 12 40366829 non coding transcript exon variant A/G snv 1.7E-02
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
0.700 1.000 1 2015 2015
dbSNP: rs17466626
rs17466626
0.724 0.240 12 40366829 non coding transcript exon variant A/G snv 1.7E-02
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis
Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs17466626
rs17466626
0.724 0.240 12 40366829 non coding transcript exon variant A/G snv 1.7E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
Musculoskeletal Diseases 0.700 1.000 1 2015 2015