Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.900 0.996 260 2005 2020
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.100 0.980 153 1997 2020
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.833 30 2002 2020
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.100 0.962 26 2009 2020
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.100 0.955 22 2004 2020
dbSNP: rs11931074
rs11931074
7 0.851 0.080 4 89718364 intron variant G/A;C;T snv 0.900 1.000 16 2009 2020
dbSNP: rs12456492
rs12456492
3 0.882 0.080 18 43093415 intron variant A/G snv 0.33 0.890 0.909 11 2012 2020
dbSNP: rs1481318368
rs1481318368
TH
10 0.827 0.120 11 2169802 missense variant C/T snv 0.090 1.000 9 2013 2020
dbSNP: rs431905511
rs431905511
9 0.827 0.080 4 89828154 missense variant C/T snv 0.070 1.000 7 2013 2020
dbSNP: rs34311866
rs34311866
6 0.882 0.080 4 958159 missense variant T/C snv 0.18 0.14 0.730 1.000 6 2014 2020
dbSNP: rs823118
rs823118
3 0.925 0.080 1 205754444 upstream gene variant C/A;T snv 0.730 0.833 6 2014 2020
dbSNP: rs1801474
rs1801474
4 0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02 0.050 1.000 5 1999 2020
dbSNP: rs1801582
rs1801582
3 0.925 0.120 6 161386823 missense variant C/G;T snv 0.16; 3.2E-05 0.030 0.667 3 2003 2020
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.030 0.667 3 2017 2020
dbSNP: rs2395163
rs2395163
3 0.882 0.160 6 32420032 intergenic variant T/C snv 0.17 0.820 1.000 3 2012 2020
dbSNP: rs75548401
rs75548401
GBA
6 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.030 1.000 3 2016 2020
dbSNP: rs1290094897
rs1290094897
2 1.000 0.040 1 7962815 synonymous variant G/T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs2287161
rs2287161
7 0.827 0.080 12 106987362 upstream gene variant C/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs34884217
rs34884217
2 0.925 0.080 4 950422 splice acceptor variant A/C snv 7.0E-02 6.8E-02 0.010 1.000 1 2020 2020
dbSNP: rs374880482
rs374880482
CHM
2 0.925 0.040 X 85963748 missense variant T/C snv 3.3E-05 2.8E-05 0.010 1.000 1 2020 2020
dbSNP: rs387906315
rs387906315
GBA
8 0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05 0.010 1.000 1 2020 2020
dbSNP: rs748055361
rs748055361
GAK
2 0.925 0.080 4 882749 missense variant A/G snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs80356773
rs80356773
GBA
3 0.925 0.080 1 155235002 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs886042808
rs886042808
1 1.000 0.040 6 41161481 missense variant C/G;T snv 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.100 0.957 70 1998 2019