Source: ALL
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: rs6460033
rs6460033
TYW1B
1 1.000 0.040 7 72798898 intron variant A/C snv 0.69 0.700 1.000 1 2006 2006
dbSNP: rs72796353
rs72796353
NOD2
5 0.882 0.080 16 50712383 3 prime UTR variant A/C snv 1.3E-02 1.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs74315352
rs74315352
PARK7
6 0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs850084
rs850084
DPY19L2P3
1 1.000 0.040 7 29731981 non coding transcript exon variant A/C snv 0.27 0.700 1.000 1 2006 2006
dbSNP: rs869312809
rs869312809
VPS13C
2 0.925 0.040 15 61915631 splice donor variant A/C snv 0.700 1.000 1 2016 2016
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: rs116074753
rs116074753
GIGYF2
2 1.000 0.040 2 232794835 missense variant A/C;G snv 3.9E-04; 8.0E-06 0.030 1.000 3 2009 2015
dbSNP: rs9347683
rs9347683
PRKN ; PACRG
3 0.882 0.120 6 162728023 5 prime UTR variant A/C;G snv 0.020 1.000 2 2009 2011
dbSNP: rs12344615
rs12344615
UBQLN1
4 0.851 0.080 9 83666280 intron variant A/C;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs2619364
rs2619364
SNCA ; SNCA-AS1
1 1.000 0.040 4 89838736 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs2740594
rs2740594
CTSB
1 1.000 0.040 8 11849665 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs2970848
rs2970848
PPARGC1A
1 1.000 0.040 4 23815404 intron variant A/C;G snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs466448
rs466448
APP
4 0.925 0.040 21 26171790 intron variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs628031
rs628031
SLC22A1
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.010 1.000 1 2019 2019
dbSNP: rs687432
rs687432 		1 1.000 0.040 11 57926788 intergenic variant A/C;G snv 0.64 0.700 1.000 1 2016 2016
dbSNP: rs7521
rs7521
MAPT ; KANSL1
3 0.925 0.080 17 46028029 3 prime UTR variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs755674394
rs755674394
NAA50
1 1.000 0.040 3 113723499 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs767543900
rs767543900
MAPT
10 0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs769519959
rs769519959
DNAJB1
1 1.000 0.040 19 14516877 missense variant A/C;G snv 8.0E-06; 4.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs849898
rs849898
LOC107985355
2 0.925 0.040 1 227966216 intergenic variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.060 1.000 6 2004 2017
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: rs2306604
rs2306604
TFAM
5 0.827 0.080 10 58388932 intron variant A/C;G;T snv 0.030 1.000 3 2007 2013
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs241041
rs241041
LINC02210 ; LINC02210-CRHR1
3 0.925 0.120 17 45636559 non coding transcript exon variant A/C;G;T snv 0.14 0.700 1.000 1 2012 2012