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: rs16991615
rs16991615
MCM8
6 0.925 0.080 20 5967581 missense variant G/A snv 4.5E-02 4.2E-02 0.800 1.000 6 2009 2019
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: rs11668344
rs11668344
TMEM150B
4 0.925 0.120 19 55322296 intron variant A/G snv 0.35 0.800 1.000 3 2012 2015
dbSNP: rs1172822
rs1172822
BRSK1 ; TMEM150B
2 1.000 0.040 19 55308477 intron variant C/T snv 0.34 0.800 1.000 3 2009 2013
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: rs1046089
rs1046089
PRRC2A
4 0.882 0.200 6 31635190 missense variant G/A snv 0.36 0.40 0.800 1.000 2 2012 2013
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: rs236114
rs236114
MCM8
2 1.000 0.040 20 5954739 intron variant T/C snv 0.84 0.84 0.800 1.000 2 2009 2013
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: rs2517388
rs2517388
ASH2L
3 0.925 0.080 8 38120214 intron variant T/G snv 0.24 0.800 1.000 2 2012 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