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: rs2277339
rs2277339
PRIM1 ; HSD17B6
10 12 56752285 missense variant T/G snv 0.12 0.14 0.800 1.000 4 2012 2019
dbSNP: rs10852344
rs10852344 		1 16 11923062 upstream gene variant C/T snv 0.43 0.800 1.000 3 2012 2015
dbSNP: rs12461110
rs12461110
NLRP11
2 19 55809297 missense variant G/A snv 0.32 0.26 0.800 1.000 3 2012 2015
dbSNP: rs365132
rs365132
UIMC1
2 5 176951573 synonymous variant G/T snv 0.51 0.58 0.800 1.000 3 2009 2015
dbSNP: rs10734411
rs10734411 		1 11 32520238 intergenic variant G/A snv 0.56 0.700 1.000 2 2015 2019
dbSNP: rs1760940
rs1760940
PNP
1 14 20470092 intron variant A/C snv 0.22 0.800 1.000 2 2012 2019
dbSNP: rs2153157
rs2153157
SYCP2L
1 6 10897255 intron variant G/A snv 0.55 0.800 1.000 2 2009 2012
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: rs4246511
rs4246511
RHBDL2 ; LOC105378662
1 1 38914713 intron variant T/C snv 0.55 0.800 1.000 2 2012 2015
dbSNP: rs4693089
rs4693089
HELQ
2 4 83452469 intron variant A/G snv 0.60 0.800 1.000 2 2012 2015
dbSNP: rs4886238
rs4886238
TDRD3
1 13 60539605 intron variant G/A;T snv 0.800 1.000 2 2012 2015
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: rs10183486
rs10183486
TLK1
1 2 171134461 intron variant C/T snv 0.41 0.800 1.000 1 2012 2012
dbSNP: rs1029285
rs1029285
GSPT1 ; LOC105371084
1 16 11893261 intron variant G/A snv 0.43 0.700 1.000 1 2019 2019
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: 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