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: rs28470843
rs28470843
YY1 ; MIR6764
1 14 100276321 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs61993680
rs61993680
SLC25A29
1 14 100286307 intron variant A/C snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs11166440
rs11166440 		1 1 100342807 upstream gene variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs241812
rs241812
SIM1 ; LOC102724406
2 6 100443115 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1857859
rs1857859
SIM1
1 6 100446711 intron variant G/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs3775932
rs3775932
WDR1
1 4 10089306 intron variant C/A snv 0.47 0.700 1.000 1 2019 2019
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: rs17126268
rs17126268 		1 1 102260843 intron variant T/C snv 7.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs75174967
rs75174967
SUFU
2 10 102517336 intron variant G/A snv 8.2E-03 0.700 1.000 1 2018 2018
dbSNP: rs72995641
rs72995641 		1 2 102549866 intergenic variant G/A snv 0.27 0.700 1.000 1 2019 2019
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: rs6833292
rs6833292 		1 4 10270805 upstream gene variant C/T snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs223471
rs223471
LOC102723704
1 4 102777629 intergenic variant G/C snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs284859
rs284859
WBP1L
1 10 102813260 missense variant G/A;T snv 8.1E-06; 0.20 0.700 1.000 1 2019 2019
dbSNP: rs6892
rs6892
WBP1L
1 10 102816113 3 prime UTR variant A/G snv 0.15 0.700 1.000 2 2019 2019
dbSNP: rs223401
rs223401
UBE2D3
1 4 102817815 intron variant T/C snv 0.38 0.700 1.000 2 2019 2019
dbSNP: rs223308
rs223308
SLC9B1 ; CISD2
1 4 102891342 3 prime UTR variant A/G snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs7688014
rs7688014
SLC9B2
1 4 103053903 intron variant T/C snv 0.65 0.700 1.000 1 2019 2019
dbSNP: rs200777151
rs200777151
SLC9B2
1 4 103057271 intron variant T/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs10715507
rs10715507
SLC9B2
1 4 103060542 intron variant TTTTTTT/-;T;TTTT;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs1163087
rs1163087
INA
1 10 103283532 intron variant G/A snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs7832708
rs7832708
MSRA
4 8 10332530 intron variant C/T snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs11191686
rs11191686
PDCD11
1 10 103427989 intron variant G/A snv 0.29 0.700 1.000 1 2019 2019