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: rs2307449
rs2307449
POLG
1 15 89320697 intron variant T/G snv 0.47 0.800 1.000 1 2012 2012
dbSNP: rs3736830
rs3736830
KPNA3
1 13 49732085 intron variant G/C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs4141232
rs4141232
LOC100420587
1 19 28544649 intron variant T/C snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs4397868
rs4397868 		1 11 133697090 intergenic variant C/T snv 0.87 0.800 1.000 1 2009 2009
dbSNP: rs4843747
rs4843747
BANP
1 16 87957445 intron variant A/C snv 0.83 0.800 1.000 1 2009 2009
dbSNP: rs494620
rs494620
CYP21A2 ; SLC44A4
3 0.925 0.120 6 31870936 stop gained G/A;T snv 0.44; 4.1E-06 0.800 1.000 1 2009 2009
dbSNP: rs4955755
rs4955755
SLC7A14-AS1 ; LOC105374211
1 3 170776620 intron variant G/A snv 0.55 0.800 1.000 1 2009 2009
dbSNP: rs6468442
rs6468442
ADGRA2
1 8 37829231 intron variant A/G snv 0.81 0.84 0.800 1.000 1 2009 2009
dbSNP: rs6975557
rs6975557
NRCAM
1 7 108332853 intron variant A/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs7333181
rs7333181 		2 1.000 0.040 13 111568950 intergenic variant G/A snv 0.11 0.800 1.000 1 2009 2009
dbSNP: rs10734411
rs10734411 		1 11 32520238 intergenic variant G/A snv 0.56 0.700 1.000 2 2015 2019
dbSNP: rs2384687
rs2384687
TMEM150B
1 19 55319820 non coding transcript exon variant A/G snv 0.38 0.700 1.000 2 2009 2013
dbSNP: rs349306
rs349306
ARID3A
1 19 950694 intron variant G/A snv 0.87 0.700 1.000 2 2015 2019
dbSNP: rs75770066
rs75770066
HELB
1 12 66310445 missense variant A/G snv 3.1E-02 2.5E-02 0.700 1.000 2 2015 2019
dbSNP: rs897798
rs897798
TMEM150B
1 19 55322386 intron variant A/G snv 0.46 0.700 1.000 2 2009 2013
dbSNP: rs10049761
rs10049761
FRYL
1 4 48684940 intron variant G/T snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs10145469
rs10145469 		1 14 97303497 intergenic variant C/A snv 5.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs10156597
rs10156597
LINC01505
2 9 106179228 intron variant A/T snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs1029285
rs1029285
GSPT1 ; LOC105371084
1 16 11893261 intron variant G/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs10521305
rs10521305
FTO
1 16 53874572 intron variant T/C snv 4.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs1054875
rs1054875
POLG
1 15 89335895 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10813912
rs10813912
APTX
1 9 32975212 non coding transcript exon variant A/G snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs10840614
rs10840614
TMEM120B
1 12 121753584 intron variant A/C snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs10854167
rs10854167
DIDO1
1 20 62901687 intron variant G/C snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs10905065
rs10905065
TASOR2
1 10 5727864 intron variant G/A snv 0.53 0.700 1.000 1 2015 2015