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: rs34637584
rs34637584
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.900 0.996 260 2005 2020
dbSNP: rs34778348
rs34778348
0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.900 0.925 53 2006 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: rs34637584
rs34637584
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.810 1.000 7 2005 2015
dbSNP: rs33939927
rs33939927
0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.800 1.000 28 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: 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: 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: rs34637584
rs34637584
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.720 1.000 10 2004 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: rs33939927
rs33939927
0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
0.710 1.000 2 2007 2016
dbSNP: rs145364431
rs145364431
1.000 12 40322047 missense variant G/A;T snv 8.0E-06; 3.6E-05
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.700 1.000 21 2004 2018
dbSNP: rs17466213
rs17466213
0.925 0.040 12 40308618 missense variant A/G snv 8.6E-04 5.8E-04
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.700 1.000 21 2004 2018
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: rs201271001
rs201271001
1.000 12 40351585 missense variant G/A snv 5.2E-05 9.1E-05
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.700 1.000 21 2004 2018
dbSNP: rs34778348
rs34778348
0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.700 1.000 21 2004 2018
dbSNP: rs35173587
rs35173587
0.925 0.040 12 40284011 missense variant G/A;T snv 4.0E-06; 1.0E-03
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.700 1.000 21 2004 2018
dbSNP: rs35507033
rs35507033
0.882 0.080 12 40313976 missense variant G/A;C snv 4.0E-03; 4.0E-06
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.700 1.000 21 2004 2018
dbSNP: rs35602796
rs35602796
1.000 12 40323256 missense variant T/C snv 3.5E-04 6.1E-04
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.700 1.000 21 2004 2018
dbSNP: rs33958906
rs33958906
1.000 12 40314059 missense variant C/T snv 3.2E-02 3.0E-02
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.700 1.000 20 2004 2018
dbSNP: rs111341148
rs111341148
0.925 0.040 12 40298346 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.700 1.000 1 2013 2013
dbSNP: rs111691891
rs111691891
1.000 12 40351579 missense variant C/T snv 4.0E-06 4.9E-05
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
0.700 1.000 1 2013 2013