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: rs10494132
rs10494132
CHIA
4 0.851 0.080 1 111289601 upstream gene variant T/C snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs56317450
rs56317450
PHF14
1 1.000 0.080 7 11137720 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs10774625
rs10774625
ATXN2
13 0.763 0.320 12 111472415 intron variant A/G snv 0.66 0.700 1.000 1 2019 2019
dbSNP: rs143326447
rs143326447
MIR4435-2HG ; SOCAR
4 0.925 0.080 2 111511155 intron variant T/C snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs11065979
rs11065979 		12 0.851 0.200 12 111621753 intergenic variant C/T snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs59289606
rs59289606
KIAA1958
1 1.000 0.080 9 112563085 intron variant C/A snv 0.16 0.710 1.000 1 2018 2018
dbSNP: rs2234678
rs2234678
IL1RN
2 0.925 0.080 2 113117988 5 prime UTR variant A/G snv 0.25 0.21 0.010 1.000 1 2007 2007
dbSNP: rs3814399
rs3814399
BOC
1 1.000 0.080 3 113272645 synonymous variant C/A;T snv 4.7E-04; 2.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs1314595
rs1314595
ATRNL1
1 1.000 0.080 10 115148713 intron variant C/T snv 4.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs892225
rs892225
SBNO2
2 0.925 0.080 19 1152657 intron variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs4807630
rs4807630
SBNO2 ; LOC102725180
1 1.000 0.080 19 1170446 intron variant C/T snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs980577637
rs980577637
NOS1
2 0.925 0.080 12 117265431 missense variant C/T snv 5.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs76830467
rs76830467
NOS1
2 1.000 0.080 12 117321510 intron variant A/T snv 3.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs12365699
rs12365699 		5 0.882 0.120 11 118872577 regulatory region variant G/A snv 0.12 0.700 1.000 2 2019 2019
dbSNP: rs2450083
rs2450083
COLEC10
2 1.000 0.080 8 119051303 intron variant T/C snv 0.59 0.700 1.000 1 2019 2019
dbSNP: rs928382
rs928382 		1 1.000 0.080 10 120122169 regulatory region variant C/G snv 0.99 0.700 1.000 1 2013 2013
dbSNP: rs1696361
rs1696361 		2 0.925 0.080 12 120926020 TF binding site variant T/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs188074962
rs188074962 		2 0.925 0.080 12 120927628 intergenic variant G/A snv 0.79 0.700 1.000 1 2019 2019
dbSNP: rs1806656
rs1806656
ILDR1
2 0.925 0.080 3 121997324 intron variant C/G snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs17454584
rs17454584 		6 0.851 0.080 4 122432277 downstream gene variant A/G snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs2069763
rs2069763
IL2
6 0.807 0.320 4 122456327 synonymous variant C/A snv 0.36 0.29 0.700 1.000 1 2019 2019
dbSNP: rs1716183
rs1716183
PITPNM2
1 1.000 0.080 12 123150549 upstream gene variant C/T snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs16929097
rs16929097 		1 1.000 0.080 9 12521826 intergenic variant G/A snv 4.7E-02 0.800 1.000 1 2013 2013
dbSNP: rs8179521
rs8179521
MAP3K2-DT
1 1.000 0.080 2 127393348 intron variant A/C;G snv 0.700 1.000 1 2007 2007
dbSNP: rs1931704
rs1931704 		1 1.000 0.080 10 127541545 intergenic variant G/A snv 0.28 0.010 1.000 1 2017 2017