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: rs10015979
rs10015979
HTT
1 1.000 0.120 4 3107715 intron variant A/G snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2005 2005
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2007 2013
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2010 2010
dbSNP: rs1057035
rs1057035
DICER1
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs10881578
rs10881578
RXRA
2 0.925 0.240 9 134340689 intron variant A/G snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs10934657
rs10934657
KALRN
1 1.000 0.120 3 124093989 intron variant T/C snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs10937921
rs10937921 		2 1.000 0.120 4 3274764 downstream gene variant C/T snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs11039155
rs11039155
NR1H3
6 0.827 0.400 11 47259211 5 prime UTR variant G/A snv 0.14 0.12 0.010 1.000 1 2018 2018
dbSNP: rs110501
rs110501
HTT
1 1.000 0.120 4 3223751 intron variant T/C snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs11248108
rs11248108
RNF4
1 1.000 0.120 4 2479763 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2005
dbSNP: rs1138690
rs1138690 		1 1.000 0.120 4 3289674 upstream gene variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1170668763
rs1170668763
BECN1
1 1.000 0.120 17 42818395 missense variant T/A snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs11731237
rs11731237
HTT
1 1.000 0.120 4 3150086 intron variant C/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs1210554604
rs1210554604
HTT
1 1.000 0.120 4 3131662 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs121917767
rs121917767
UCHL1
6 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs1232027
rs1232027
LINC01337
1 1.000 0.120 5 80619201 intron variant G/A snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs12641989
rs12641989
RGS12
1 1.000 0.120 4 3418113 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs12668183
rs12668183 		1 1.000 0.120 7 16455781 regulatory region variant T/C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs1272951905
rs1272951905
MTHFSD
3 0.925 0.160 16 86532210 missense variant C/T snv 2.1E-05 0.010 1.000 1 2019 2019