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: rs66803065
rs66803065
SBF2
2 11 10004305 intron variant C/A;T snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs7158754
rs7158754
EVL
1 14 100117012 intron variant A/G snv 0.81 0.700 1.000 1 2019 2019
dbSNP: rs67885470
rs67885470
CNTN5
1 11 100127699 intron variant C/T snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs603424
rs603424
PKD2L1
13 1.000 0.080 10 100315722 intron variant G/A snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs1535464
rs1535464
SLC25A47
2 14 100327094 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs26030
rs26030
FAM174A
1 5 100542328 intron variant T/C snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs35571646
rs35571646 		1 11 100662632 upstream gene variant -/CTAT ins 0.34 0.700 1.000 1 2019 2019
dbSNP: rs1693567
rs1693567
SNX31 ; LOC105375672
1 8 100665158 upstream gene variant T/C snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs670401
rs670401
ARHGAP42
3 11 100701679 intron variant A/G snv 0.76 0.700 1.000 1 2018 2018
dbSNP: rs6590811
rs6590811
ARHGAP42
4 11 100708153 intron variant C/T snv 0.53 0.700 1.000 2 2018 2018
dbSNP: rs59228823
rs59228823 		1 14 100718850 regulatory region variant G/C snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs633185
rs633185
ARHGAP42
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.700 1.000 8 2011 2018
dbSNP: rs6590816
rs6590816
ARHGAP42
4 11 100730902 intron variant G/A snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs604723
rs604723
ARHGAP42
9 1.000 0.040 11 100739815 intron variant T/C snv 0.78 0.700 1.000 2 2018 2019
dbSNP: rs486023
rs486023
ARHGAP42
2 11 100772406 intron variant G/A snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs10883543
rs10883543
PAX2
1 10 100792995 intron variant G/T snv 0.91 0.700 1.000 1 2019 2019
dbSNP: rs4551692
rs4551692
PAX2
2 10 100796696 intron variant G/A snv 0.91 0.700 1.000 1 2017 2017
dbSNP: rs112184198
rs112184198 		1 10 100844757 intergenic variant G/A snv 9.3E-02 0.700 1.000 2 2017 2019
dbSNP: rs10895025
rs10895025
ARHGAP42
1 11 100877772 intron variant T/C snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs10883617
rs10883617
BTRC
1 10 101353278 upstream gene variant T/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs17248480
rs17248480
BANK1
2 4 101514108 intron variant G/A snv 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs142449193
rs142449193
NCALD
1 8 101738369 intron variant C/T snv 6.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs3218248
rs3218248
LOC105378457 ; LOC105378458
1 10 101768487 downstream gene variant G/A snv 1.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs10409243
rs10409243
DNMT1 ; S1PR2
6 19 10222312 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2116942
rs2116942
DNMT1 ; S1PR2
1 19 10223987 missense variant T/A;G snv 3.5E-04; 0.54 0.700 1.000 1 2019 2019