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: rs1411478
rs1411478
STX6
3 0.925 0.120 1 180993146 intron variant A/G snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs1551562
rs1551562
BRSK1
1 19 55303513 intron variant A/G snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs1713460
rs1713460 		1 14 20465456 upstream gene variant A/G snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs1800932
rs1800932
MSH6 ; FBXO11
3 2 47790942 synonymous variant A/G snv 0.13 0.15 0.700 1.000 1 2015 2015
dbSNP: rs2679894
rs2679894
TGFBRAP1
2 2 105254322 upstream gene variant A/G snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs2941505
rs2941505
PGAP3
1 17 39676451 intron variant A/G snv 0.59 0.700 1.000 1 2015 2015
dbSNP: rs427394
rs427394
TENT4A
1 5 6745762 intron variant A/G snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs4491723
rs4491723
RIF1
1 2 151423732 non coding transcript exon variant A/G snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs4930718
rs4930718
RILPL2
1 12 123428886 intron variant A/G snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs60907808
rs60907808 		1 19 22921266 upstream gene variant A/G snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs62156695
rs62156695 		1 2 67422636 intergenic variant A/G snv 6.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs6468442
rs6468442
ADGRA2
1 8 37829231 intron variant A/G snv 0.81 0.84 0.800 1.000 1 2009 2009
dbSNP: rs6856693
rs6856693
ACSL1 ; LOC105377587
1 4 184827652 intron variant A/G snv 0.47 0.700 1.000 1 2015 2015
dbSNP: rs6899676
rs6899676
SYCP2L
2 6 10895027 intron variant A/G snv 0.21 0.700 1.000 1 2015 2015
dbSNP: rs6975557
rs6975557
NRCAM
1 7 108332853 intron variant A/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs707938
rs707938
MSH5 ; SAPCD1 ; MSH5-SAPCD1
3 6 31761582 synonymous variant A/G snv 0.38 0.44 0.700 1.000 1 2015 2015
dbSNP: rs7137869
rs7137869
LOC105370027
2 12 119551841 intron variant A/G snv 0.19 0.700 1.000 1 2007 2007
dbSNP: rs7606918
rs7606918
METAP1D
1 2 172030546 intron variant A/G snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs763121
rs763121
DDX17 ; KDELR3
1 22 38483935 3 prime UTR variant A/G snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs7665103
rs7665103
HELQ
1 4 83443598 synonymous variant A/G snv 0.46 0.44 0.700 1.000 1 2018 2018
dbSNP: rs76928871
rs76928871
MSH6
1 2 47778682 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs8070740
rs8070740
RPAIN
1 17 5428576 3 prime UTR variant A/G snv 0.26 0.700 1.000 1 2015 2015
dbSNP: rs888368
rs888368
KLHL25 ; LOC101929679
1 15 85759052 upstream gene variant A/G snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs9393800
rs9393800
SYCP2L ; LOC101928191
3 6 10951504 intron variant A/G snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs1054875
rs1054875
POLG
1 15 89335895 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2015 2015