Source: CURATED ×
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: rs7157599
rs7157599
DEGS2
3 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 0.700 1.000 1 2013 2013
dbSNP: rs10073892
rs10073892
SLCO6A1
1 5 102391066 non coding transcript exon variant T/C snv 0.24 0.21 0.700 1.000 1 2014 2014
dbSNP: rs2973488
rs2973488
CTNND2
1 5 11043805 intron variant A/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs16885997
rs16885997 		1 8 114496877 intergenic variant G/T snv 3.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs1554950703
rs1554950703
HTRA1 ; LOC105378526
2 1.000 0.200 10 122489463 missense variant C/G snv 0.700 1.000 6 2009 2016
dbSNP: rs864309520
rs864309520
ABCD1 ; BCAP31
2 1.000 0.160 X 153725917 missense variant G/C snv 0.700 0
dbSNP: rs1557136818
rs1557136818
MECP2
4 0.925 0.120 X 154031259 missense variant C/T snv 0.700 0
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
dbSNP: rs796052957
rs796052957
SCN1A ; SCN1A-AS1
3 0.925 0.040 2 166054735 missense variant A/G snv 0.700 0
dbSNP: rs727502818
rs727502818
KCNC1
20 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
21 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
dbSNP: rs73643144
rs73643144
TEK
1 9 27126454 intron variant T/C snv 3.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs146170087
rs146170087
C19orf12
6 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.700 0
dbSNP: rs515726205
rs515726205
C19orf12
7 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 0
dbSNP: rs555145190
rs555145190
NAGLU
21 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
dbSNP: rs371334506
rs371334506
SPG11
5 0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs1555454508
rs1555454508
SPG11
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs765061840
rs765061840
SPG11
6 0.882 0.120 15 44633619 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs312262717
rs312262717
SPG11
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs2075650
rs2075650
TOMM40
25 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.800 1.000 1 2014 2014
dbSNP: rs115881343
rs115881343
TOMM40
1 1.000 0.040 19 44899959 intron variant C/G;T snv 2.9E-02 0.710 1.000 1 2014 2014
dbSNP: rs769449
rs769449
APOE
10 0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02 0.710 1.000 1 2014 2014
dbSNP: rs429358
rs429358
APOE
29 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.710 1.000 1 2017 2019
dbSNP: rs4420638
rs4420638
APOC1
36 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.710 1.000 1 2012 2019