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: rs61784824
rs61784824
IPP
1 1 45745675 intron variant A/G snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs6425521
rs6425521
DNM3
1 1 171973643 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6662263
rs6662263
DNM3
1 1 171975102 intron variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs74340846
rs74340846 		1 1 30769039 intergenic variant G/T snv 5.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs752307
rs752307
PARP1
1 1 226363828 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7529925
rs7529925
LINC01221
4 1 199038079 intron variant C/T snv 0.77 0.700 1.000 1 2018 2018
dbSNP: rs7550918
rs7550918
GCSAML
1 1 247512257 intron variant C/T snv 0.70 0.800 1.000 1 2011 2011
dbSNP: rs77320796
rs77320796 		1 1 39929523 intergenic variant A/G snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs781255974
rs781255974
LINC01221
1 1 199025568 intron variant AAA/-;A;AA;AAAA;AAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs78265569
rs78265569 		1 1 2214726 intron variant C/A snv 7.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs928391
rs928391
SH2D2A
1 1 156806925 intron variant T/C snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 3 2011 2018
dbSNP: rs10048745
rs10048745
ARHGAP25
2 2 68735005 5 prime UTR variant G/A snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs10199109
rs10199109
LOC105373583
1 2 120236957 upstream gene variant G/T snv 0.75 0.700 1.000 1 2016 2016
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2016 2016
dbSNP: rs12052715
rs12052715
LY75 ; LY75-CD302
2 2 159820864 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs148440689
rs148440689
MARCHF7
1 2 159748030 missense variant G/A snv 1.9E-02 1.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs149290349
rs149290349
ZFP36L2
3 2 43224818 missense variant G/A;T snv 6.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs17030845
rs17030845
THADA
1 2 43460740 intron variant C/T snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs17572109
rs17572109
ARPC2
3 2 218229211 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs373518068
rs373518068 		1 2 226469439 intergenic variant ATAT/-;AT;ATATAT;ATATATAT delins 0.700 1.000 1 2016 2016
dbSNP: rs4377346
rs4377346
MIR4435-2HG
1 2 111428267 intron variant T/C snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs4670779
rs4670779 		1 2 37817201 non coding transcript exon variant C/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs544436097
rs544436097
RND3
1 2 150498091 intron variant TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs625132
rs625132
EHD3
1 2 31259434 intron variant A/G snv 0.82 0.800 1.000 1 2011 2011