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: rs11627546
rs11627546
SMOC1
2 14 69899207 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs11669479
rs11669479
HDGFL2
2 19 4485049 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11756659
rs11756659 		4 6 25933704 upstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11761408
rs11761408
WIPI2
1 7 5228885 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1203039
rs1203039
RAB11FIP3
2 16 461337 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs12083184
rs12083184
OR10Z1
1 1 158609130 3 prime UTR variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1211375
rs1211375
LUC7L
4 1.000 0.040 16 190281 intron variant A/C;T snv 0.800 1.000 1 2013 2013
dbSNP: rs12135894
rs12135894 		2 1 3811497 downstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12232375
rs12232375
ZFPM1
2 16 88500003 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12471768
rs12471768
SERTAD2
1 2 64701469 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs12636078
rs12636078
KAT2B
3 3 20064181 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12718597
rs12718597
IKZF1
2 7 50360730 intron variant C/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs12935418
rs12935418
ATMIN ; LOC107984858
1 16 81036403 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs13091206
rs13091206
CCDC36
2 3 49201285 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs13108419
rs13108419
TMEM155 ; PP12613
1 4 121766083 non coding transcript exon variant A/C;G snv 2.3E-05; 0.42 0.700 1.000 1 2018 2018
dbSNP: rs131794
rs131794
ODF3B
2 22 50533323 upstream gene variant A/C;G;T snv 0.800 1.000 1 2009 2009
dbSNP: rs13219787
rs13219787
H2AC17 ; H2BC17
5 6 27893892 upstream gene variant G/A;T snv 3.9E-02; 2.4E-04 0.700 1.000 1 2017 2017
dbSNP: rs13335629
rs13335629
FAM234A
4 16 260381 intron variant G/A;C snv 1.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs139164185
rs139164185 		1 1 198583770 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs140484951
rs140484951 		1 6 29178695 upstream gene variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs141007801
rs141007801
CASC15
2 6 21722558 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs143800403
rs143800403
MIR4435-2HG
1 2 111373568 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs144204502
rs144204502
TK1 ; AFMID
4 17 78187152 5 prime UTR variant C/G;T snv 1.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs1445760
rs1445760
PIK3R1
1 5 68297188 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1448203
rs1448203
MIR4435-2HG ; SOCAR
1 2 111510708 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2016 2016