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: rs113994095
rs113994095
POLG ; MIR6766
21 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
dbSNP: rs9834970
rs9834970 		5 0.790 0.080 3 36814539 downstream gene variant T/C snv 0.45 0.810 1.000 9 2010 2019
dbSNP: rs1006737
rs1006737
CACNA1C
7 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.900 0.964 5 2008 2019
dbSNP: rs12576775
rs12576775
TENM4
6 0.827 0.080 11 79366149 intron variant A/G snv 0.15 0.820 1.000 5 2011 2018
dbSNP: rs9371601
rs9371601
SYNE1
6 0.790 0.120 6 152469438 intron variant G/T snv 0.46 0.820 1.000 4 2011 2019
dbSNP: rs4765913
rs4765913
CACNA1C
1 1.000 0.040 12 2310730 intron variant A/T snv 0.82 0.810 1.000 3 2011 2017
dbSNP: rs10994397
rs10994397
ANK3
5 0.851 0.040 10 60519366 intron variant C/T snv 9.5E-02 0.800 1.000 3 2011 2014
dbSNP: rs4650608
rs4650608 		7 0.851 0.040 1 78772330 intergenic variant T/C snv 0.29 0.800 1.000 3 2013 2014
dbSNP: rs10994336
rs10994336
ANK3
2 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.900 0.933 2 2008 2018
dbSNP: rs1938526
rs1938526
ANK3
2 0.882 0.040 10 60540625 intron variant A/G snv 8.3E-02 0.840 1.000 2 2011 2017
dbSNP: rs10994359
rs10994359
ANK3
5 0.827 0.040 10 60462349 intron variant T/C snv 8.0E-02 0.810 1.000 2 2013 2014
dbSNP: rs420259
rs420259
PALB2
1 0.925 0.040 16 23622705 intron variant A/C;G snv 0.810 1.000 2 2007 2011
dbSNP: rs10896135
rs10896135
C11orf80
1 1.000 0.040 11 66783531 intron variant G/A;C snv 0.800 1.000 2 2011 2018
dbSNP: rs10994338
rs10994338
ANK3
2 0.882 0.040 10 60421370 intron variant G/A snv 7.5E-02 0.800 1.000 2 2011 2014
dbSNP: rs12899449
rs12899449
LINC02694
1 1.000 0.040 15 38703290 intron variant A/G snv 0.24 0.800 1.000 2 2008 2011
dbSNP: rs12912251
rs12912251
LINC02694
3 0.882 0.080 15 38694167 intron variant G/T snv 0.25 0.800 1.000 2 2011 2013
dbSNP: rs1487441
rs1487441 		1 1.000 0.040 6 98106018 intron variant G/A snv 0.39 0.800 1.000 2 2014 2016
dbSNP: rs4948418
rs4948418
ANK3
1 0.925 0.040 10 60425736 intron variant C/T snv 7.9E-02 0.800 1.000 2 2013 2014
dbSNP: rs7296288
rs7296288
DHH
2 0.851 0.080 12 49086185 upstream gene variant A/C snv 0.50 0.710 1.000 2 2011 2014
dbSNP: rs17138171
rs17138171
TENM4
1 1.000 0.040 11 79351885 intron variant T/A;C snv 0.700 1.000 2 2013 2014
dbSNP: rs17693963
rs17693963 		5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.700 1.000 2 2013 2014
dbSNP: rs1944449
rs1944449
TENM4
1 1.000 0.040 11 79372205 intron variant C/T snv 0.18 0.700 1.000 2 2013 2014
dbSNP: rs2302417
rs2302417
ITIH1
1 1.000 0.040 3 52780240 non coding transcript exon variant T/A snv 0.44; 3.1E-03; 1.5E-04; 1.0E-05 0.42 0.700 1.000 2 2017 2019
dbSNP: rs2535629
rs2535629
ITIH3
5 0.827 0.040 3 52799203 intron variant G/A;C snv 0.700 1.000 2 2013 2019
dbSNP: rs3755806
rs3755806
PBRM1
2 0.925 0.040 3 52609669 synonymous variant T/C snv 0.39 0.34 0.700 1.000 2 2013 2013