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: rs138119149
rs138119149
AARS2 ; TMEM151B
11 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs369566535
rs369566535
AARS2 ; TMEM151B
1 6 44304659 missense variant G/A;C snv 3.6E-05; 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1024095026
rs1024095026
ABCC9
1 12 21887879 stop gained G/A snv 1.2E-05 0.700 1.000 1 2012 2012
dbSNP: rs1565477732
rs1565477732
ABCC9
1 12 21912871 splice donor variant C/T snv 0.700 0
dbSNP: rs193922683
rs193922683
ABCC9
1 12 21852457 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 < 0.001 2 1997 1999
dbSNP: rs121912673
rs121912673
ACTC1 ; LOC101928174
4 0.882 0.080 15 34791163 missense variant C/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs121912677
rs121912677
ACTC1 ; LOC101928174
2 1.000 0.080 15 34793326 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1566967399
rs1566967399
ACTC1 ; LOC101928174
1 15 34792158 missense variant C/T snv 0.700 0
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
9 0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs755747010
rs755747010
AGL
2 1.000 0.080 1 99870764 stop gained C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 < 0.001 2 1997 1999
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 < 0.001 1 1997 1997
dbSNP: rs769139957
rs769139957
ALPK3
1 15 84840691 frameshift variant C/-;CC delins 0.700 1.000 1 2017 2017
dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs1057517686
rs1057517686
ATAD3A
7 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121918312
rs121918312
BAG3
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1286964261
rs1286964261
BANF1 ; EIF1AD
1 11 66003356 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs501192
rs501192
CASP1
3 0.925 0.200 11 105029658 splice region variant C/T snv 0.17 0.15 0.010 1.000 1 2017 2017
dbSNP: rs745743737
rs745743737
CAVIN4
1 9 100585774 missense variant C/G;T snv 8.0E-06; 3.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs1056892
rs1056892
CBR3 ; CBR3-AS1
6 0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1786814
rs1786814
CELF4
1 18 37497065 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs672601347
rs672601347
COL4A1
3 0.925 0.120 13 110179298 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs778740017
rs778740017
COX6B1
3 0.925 0.120 19 35651301 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1799821
rs1799821
CPT2
8 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 1992 1992