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: rs4246511
rs4246511
RHBDL2 ; LOC105378662
1 1 38914713 intron variant T/C snv 0.55 0.800 1.000 2 2012 2015
dbSNP: rs112869704
rs112869704
UQCRH
1 1 46314613 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11586493
rs11586493
STX6
1 1 180992109 intron variant G/A snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs12132692
rs12132692
SELE ; C1orf112 ; LOC101928628
1 1 169763602 intron variant C/T snv 6.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs12142240
rs12142240
LRRC41
1 1 46281629 intron variant T/C snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs1411478
rs1411478
STX6
3 0.925 0.120 1 180993146 intron variant A/G snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs1635501
rs1635501
EXO1
1 1 241877473 intron variant C/T snv 0.54 0.800 1.000 1 2012 2012
dbSNP: rs1635506
rs1635506
EXO1
1 1 241865502 intron variant T/C snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs200448
rs200448
DNAJC11
1 1 6641918 intron variant T/C snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs2236918
rs2236918
EXO1
1 1 241854524 intron variant C/G snv 0.62 0.700 1.000 1 2015 2015
dbSNP: rs4970634
rs4970634
RHBDL2
1 1 38898945 intron variant G/A snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs72661322
rs72661322
CCDC30
1 1 42641504 intron variant T/C snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs72708144
rs72708144
H2AC18 ; H2BC19P
1 1 149844173 non coding transcript exon variant T/C snv 3.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs7521072
rs7521072
ADSS2
1 1 244429978 intron variant C/T snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs7537437
rs7537437 		2 1 38973866 regulatory region variant G/A snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs10183486
rs10183486
TLK1
1 2 171134461 intron variant C/T snv 0.41 0.800 1.000 1 2012 2012
dbSNP: rs10496262
rs10496262
LOC102724542
1 2 81524000 intergenic variant C/A snv 0.12 0.800 1.000 1 2007 2007
dbSNP: rs10496265
rs10496265 		1 2 81441684 intergenic variant T/C snv 0.12 0.800 1.000 1 2007 2007
dbSNP: rs10931831
rs10931831
LOC105373831
1 2 198756917 intron variant C/T snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs1473307
rs1473307 		1 2 225360907 intergenic variant C/T snv 0.64 0.800 1.000 1 2013 2013
dbSNP: rs1800932
rs1800932
MSH6 ; FBXO11
3 2 47790942 synonymous variant A/G snv 0.13 0.15 0.700 1.000 1 2015 2015
dbSNP: rs1979033
rs1979033
CCNT2
1 2 134947988 intron variant G/A snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs1991371
rs1991371
BMPR2
1 2 202553814 intron variant G/A snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs2303369
rs2303369
FNDC4
3 0.925 0.120 2 27492549 intron variant C/T snv 0.38 0.800 1.000 1 2012 2012
dbSNP: rs2679894
rs2679894
TGFBRAP1
2 2 105254322 upstream gene variant A/G snv 0.43 0.700 1.000 1 2018 2018