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: rs6059655
rs6059655
RALY
10 0.790 0.080 20 34077942 intron variant A/G snv 0.95 0.700 1.000 2 2016 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2019 2019
dbSNP: rs7335046
rs7335046 		7 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 0.700 1.000 1 2011 2011
dbSNP: rs9419958
rs9419958
STN1
5 0.851 0.040 10 103916188 intron variant T/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs214782
rs214782
TGM3 ; LOC105372503
4 0.851 0.040 20 2301324 intron variant G/A snv 0.73 0.700 1.000 2 2014 2015
dbSNP: rs214785
rs214785
TGM3 ; LOC105372503
3 0.882 0.040 20 2302811 intron variant C/T snv 0.73 0.700 1.000 1 2016 2016
dbSNP: rs6714430
rs6714430
FLACC1
3 0.882 0.040 2 201288961 intron variant C/T snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs2080303
rs2080303
FLACC1
3 0.882 0.040 2 201300483 intron variant T/C snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs10425559
rs10425559 		7 0.807 0.040 19 4837475 upstream gene variant A/G snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs3769823
rs3769823
CASP8
6 0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 0.700 1.000 1 2017 2017
dbSNP: rs13014235
rs13014235
FLACC1
5 0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 0.700 1.000 1 2015 2015
dbSNP: rs836489
rs836489
RAC1
3 0.882 0.040 7 6379042 intron variant T/G snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs7859034
rs7859034
SMC2
4 0.851 0.120 9 104103411 intron variant G/T snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs7874604
rs7874604
CDKN2B-AS1
3 0.882 0.040 9 22054691 intron variant T/C snv 0.58 0.700 1.000 2 2016 2019
dbSNP: rs2116709
rs2116709
FOXP1 ; FOXP1-IT1
3 0.882 0.040 3 71572518 non coding transcript exon variant T/A snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs7833199
rs7833199
LOC101927066
3 0.882 0.040 8 97354773 upstream gene variant T/C snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs2721936
rs2721936
TRPS1
3 0.882 0.040 8 115620592 intron variant A/T snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs42905
rs42905 		3 0.882 0.040 5 68455394 regulatory region variant A/C snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs1765871
rs1765871
ATP11A
3 0.882 0.040 13 112879337 intron variant C/A snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs12916300
rs12916300
HERC2
13 0.742 0.080 15 28165345 intron variant C/T snv 0.50 0.700 1.000 2 2016 2019
dbSNP: rs10228836
rs10228836
SPATA48
3 0.882 0.040 7 50136567 intron variant A/G snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs535930
rs535930
SLC6A17
3 0.882 0.040 1 110181866 intron variant G/A snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs801114
rs801114 		5 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 0.700 1.000 3 2008 2015
dbSNP: rs3213737
rs3213737
HAL
3 0.882 0.040 12 95986028 intron variant G/A snv 0.53 0.48 0.700 1.000 1 2019 2019
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.700 1.000 3 2009 2015