rs751037529
|
|
0.925 |
0.040 |
6 |
161785793 |
missense variant
|
C/G
|
snv
|
1.2E-05
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.810 |
1.000 |
2 |
2013 |
2016 |
rs34424986
|
|
0.752 |
0.200 |
6 |
161785820 |
missense variant
|
G/A;T
|
snv
|
1.9E-03;
8.0E-06
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.800 |
1.000 |
33 |
1998 |
2015 |
rs137853054
|
|
0.882 |
0.160 |
6 |
161973317 |
missense variant
|
G/A;C;T
|
snv
|
3.7E-04;
4.0E-06;
8.0E-06
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.800 |
1.000 |
32 |
1998 |
2015 |
rs137853057
|
|
1.000 |
0.040 |
6 |
162201182 |
missense variant
|
T/A
|
snv
|
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.800 |
1.000 |
21 |
1998 |
2013 |
rs137853058
|
|
0.882 |
0.120 |
6 |
161973401 |
missense variant
|
C/T
|
snv
|
1.2E-05
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.800 |
1.000 |
21 |
1998 |
2013 |
rs137853060
|
|
1.000 |
0.040 |
6 |
161973403 |
missense variant
|
T/A
|
snv
|
2.0E-05
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.800 |
1.000 |
21 |
1998 |
2013 |
rs397514694
|
|
1.000 |
0.040 |
6 |
161350205 |
missense variant
|
C/A
|
snv
|
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.800 |
1.000 |
21 |
1998 |
2013 |
rs55774500
|
|
1.000 |
0.040 |
6 |
162262692 |
missense variant
|
G/A;T
|
snv
|
8.0E-06;
3.6E-03
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.800 |
1.000 |
21 |
1998 |
2013 |
rs191486604
|
|
1.000 |
0.040 |
6 |
161350208 |
missense variant
|
C/T
|
snv
|
6.0E-05
|
1.3E-04
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.800 |
1.000 |
12 |
2004 |
2015 |
rs147757966
|
|
0.925 |
0.040 |
6 |
162443383 |
missense variant
|
C/A;G;T
|
snv
|
4.0E-06;
8.8E-05
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.800 |
1.000 |
9 |
2005 |
2016 |
rs368134308
|
|
0.882 |
0.040 |
6 |
162443356 |
missense variant
|
C/A;G;T
|
snv
|
3.2E-05;
2.6E-04
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.720 |
1.000 |
23 |
1998 |
2013 |
rs137853055
|
|
1.000 |
0.040 |
6 |
161569357 |
stop gained
|
G/A
|
snv
|
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.710 |
1.000 |
1 |
1998 |
1998 |
rs137853059
|
|
1.000 |
0.040 |
6 |
162443314 |
missense variant
|
A/T
|
snv
|
1.6E-05
|
2.1E-05
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.700 |
1.000 |
21 |
1998 |
2013 |
rs149953814
|
|
1.000 |
0.040 |
6 |
161350187 |
missense variant
|
G/A
|
snv
|
1.6E-03
|
2.2E-03
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.700 |
1.000 |
21 |
1998 |
2013 |
rs55830907
|
|
1.000 |
0.040 |
6 |
161360169 |
missense variant
|
G/A
|
snv
|
1.9E-03
|
1.9E-03
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.700 |
1.000 |
21 |
1998 |
2013 |
rs148990138
|
|
1.000 |
0.040 |
6 |
162443371 |
missense variant
|
G/A
|
snv
|
1.9E-04
|
2.4E-04
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.700 |
1.000 |
20 |
1998 |
2011 |
rs150562946
|
|
0.882 |
0.040 |
6 |
161785877 |
missense variant
|
G/A
|
snv
|
4.2E-04
|
4.5E-04
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.700 |
1.000 |
20 |
1998 |
2011 |
rs532703934
|
|
1.000 |
0.040 |
6 |
162443438 |
missense variant
|
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.700 |
1.000 |
20 |
1998 |
2011 |
rs566229879
|
|
1.000 |
0.040 |
6 |
162262662 |
missense variant
|
G/A
|
snv
|
1.2E-05
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.700 |
1.000 |
20 |
1998 |
2011 |
rs778125254
|
|
1.000 |
0.040 |
6 |
161360129 |
missense variant
|
G/T
|
snv
|
8.0E-06
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.700 |
1.000 |
20 |
1998 |
2011 |
rs778305273
|
|
1.000 |
0.040 |
6 |
161350176 |
missense variant
|
A/G
|
snv
|
5.2E-05
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.700 |
1.000 |
20 |
1998 |
2011 |
rs754809877
|
|
1.000 |
0.040 |
6 |
162443326 |
frameshift variant
|
T/-
|
delins
|
|
3.1E-04
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.700 |
1.000 |
11 |
1999 |
2016 |
rs1562430103
|
|
1.000 |
0.040 |
6 |
161973301 |
splice donor variant
|
C/T
|
snv
|
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.700 |
1.000 |
2 |
1999 |
2012 |
rs1554391082
|
|
1.000 |
0.040 |
7 |
131556270 |
frameshift variant
|
-/GGCGACGG
|
delins
|
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs9456735
|
|
1.000 |
0.040 |
6 |
162054135 |
start lost
|
T/A;G
|
snv
|
4.0E-06;
4.4E-03
|
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
0.700 |
1.000 |
1 |
2013 |
2013 |