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: rs1182
rs1182
TOR1A
9 0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17 0.020 1.000 2 2009 2015
dbSNP: rs1372180906
rs1372180906
TH ; MIR4686
1 11 2171856 5 prime UTR variant C/T snv 7.0E-06 0.700 1.000 2 2007 2011
dbSNP: rs3842225
rs3842225
TOR1A
6 0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16 0.020 0.500 2 2015 2017
dbSNP: rs80358233
rs80358233
TOR1A
2 1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05 0.700 1.000 2 1997 1998
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs104894003
rs104894003
ACTB
7 0.827 0.320 7 5528536 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519279
rs1057519279
KMT2B
3 1.000 19 35720980 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519281
rs1057519281
KMT2B
3 1.000 19 35721775 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs11655081
rs11655081
ARSG
7 0.851 0.080 17 68386068 intron variant T/C snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1269252748
rs1269252748
VLDLR ; VLDLR-AS1
4 9 2641436 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1447313633
rs1447313633
ZNF142
4 1.000 2 218649090 frameshift variant TT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1559296368
rs1559296368
ZNF142
4 1.000 2 218646330 frameshift variant C/- del 0.700 1.000 1 2019 2019
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
14 0.851 0.240 21 44509225 frameshift variant GAC/AA delins 0.700 1.000 1 2016 2016
dbSNP: rs267606695
rs267606695
CA8
5 1.000 0.160 8 60266044 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs35153737
rs35153737
TOR1A
2 9 129813558 3 prime UTR variant C/- del 0.14 0.010 1.000 1 2017 2017
dbSNP: rs63750687
rs63750687
PSEN1
33 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs786205675
rs786205675
HPCA
3 1.000 0.080 1 32889123 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs796065306
rs796065306
ADCY5
4 1.000 0.080 3 123319754 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
2 1.000 0.080 MT 14597 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs864309484
rs864309484
ADCY5
4 1.000 0.080 3 123291354 missense variant A/T snv 0.010 1.000 1 2015 2015
dbSNP: rs879253799
rs879253799
DCAF17
5 0.882 0.320 2 171443559 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1057518942
rs1057518942
NPC1
2 1.000 0.160 18 23544424 missense variant G/A snv 0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1114167290
rs1114167290
MYO5A
5 0.882 0.080 15 52340235 missense variant G/C snv 0.700 0
dbSNP: rs1131692231
rs1131692231
CYFIP2
13 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0