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: rs6851943
rs6851943
LOC101929353
2 4 100203265 intron variant G/T snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs241812
rs241812
SIM1 ; LOC102724406
2 6 100443115 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1044261
rs1044261
GTPBP4 ; IDI2
3 1.000 0.080 10 1019770 stop gained C/T snv 5.0E-02 6.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs75174967
rs75174967
SUFU
2 10 102517336 intron variant G/A snv 8.2E-03 0.700 1.000 1 2018 2018
dbSNP: rs151134704
rs151134704
NFKB1 ; LOC105377347
3 4 102616435 splice region variant C/T snv 1.6E-04 9.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs228611
rs228611
MANBA
2 4 102640552 intron variant G/A snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs56121637
rs56121637
RNF128
2 X 106773038 missense variant A/T snv 5.8E-03 5.2E-03 0.700 1.000 1 2019 2019
dbSNP: rs10127790
rs10127790
SORT1
2 1 109348511 intron variant C/T snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs1933182
rs1933182 		3 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 0.700 1.000 1 2010 2010
dbSNP: rs12136063
rs12136063
SYPL2
2 1 109471548 intron variant G/A snv 0.60 0.700 1.000 1 2016 2016
dbSNP: rs7971845
rs7971845
TRPV4
1 12 109822897 intron variant C/G snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs10794720
rs10794720
WDR37
4 1.000 0.080 10 1110225 intron variant T/C snv 0.89 0.700 1.000 2 2010 2016
dbSNP: rs79105258
rs79105258
CUX2
24 12 111280427 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12144044
rs12144044
RHOC
2 1 112706169 5 prime UTR variant C/A;G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs11123169
rs11123169
PSD4
3 1.000 0.080 2 113209498 upstream gene variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs13298297
rs13298297
ASTN2
2 9 116501829 intron variant G/A snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs307558
rs307558
SYN2
2 3 12053630 intron variant G/A snv 0.75 0.700 1.000 1 2018 2018
dbSNP: rs17050272
rs17050272
LOC105373585
9 0.882 0.120 2 120548864 upstream gene variant G/A snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs2789047
rs2789047 		1 6 120868656 intergenic variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs36096257
rs36096257
TFCP2L1
3 2 121281207 missense variant G/A snv 6.8E-03 2.9E-03 0.700 1.000 1 2018 2018
dbSNP: rs10277115
rs10277115 		2 7 1245559 regulatory region variant A/T snv 0.57 0.700 1.000 1 2016 2016
dbSNP: rs62435145
rs62435145 		8 1.000 0.040 7 1246931 regulatory region variant G/T snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs1533988
rs1533988 		6 7 1253374 intergenic variant A/T snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs75834729
rs75834729
CCDC26
2 8 129359392 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2781656
rs2781656
ARG1
2 6 131561431 intron variant C/T snv 0.39 0.700 1.000 1 2018 2018