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: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.800 1.000 6 2011 2019
dbSNP: rs445
rs445
CDK6
9 7 92779056 intron variant C/T snv 0.14 0.700 1.000 3 2011 2018
dbSNP: rs4794822
rs4794822 		3 17 40000459 downstream gene variant C/G;T snv 0.800 1.000 3 2010 2014
dbSNP: rs8078723
rs8078723 		3 1.000 0.080 17 40010626 upstream gene variant T/C snv 0.36 0.700 1.000 3 2011 2017
dbSNP: rs1347767
rs1347767 		1 2 135728087 downstream gene variant C/T snv 0.97 0.700 1.000 2 2019 2019
dbSNP: rs549280
rs549280 		2 4 74105479 intergenic variant G/A snv 0.57 0.700 1.000 2 2014 2018
dbSNP: rs10075801
rs10075801
SLC22A4 ; MIR3936HG
5 5 132341949 intron variant A/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs10138752
rs10138752
RAD51B
5 14 68713254 intron variant C/T snv 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs10171849
rs10171849
IL1RN
1 2 113108257 intron variant A/C snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs10173538
rs10173538
BAZ2B ; MARCHF7
5 2 159712765 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10206089
rs10206089 		4 2 61476184 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1025687
rs1025687
MAPK4
3 18 50621423 intron variant T/C snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs1025688
rs1025688
MAPK4
3 18 50621506 intron variant G/A snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs10409243
rs10409243
DNMT1 ; S1PR2
6 19 10222312 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10858740
rs10858740 		5 12 88451258 intergenic variant A/G;T snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs10995477
rs10995477
JMJD1C
4 10 63250912 intron variant T/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs11104881
rs11104881 		1 12 88449697 intergenic variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11137087
rs11137087 		2 8 7048518 intergenic variant A/G snv 0.60 0.700 1.000 1 2016 2016
dbSNP: rs111930700
rs111930700
ACVR1B
4 12 51967869 intron variant C/G snv 8.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs113542380
rs113542380
THADA
5 2 43237679 intron variant G/A snv 4.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs113977268
rs113977268
CASC15 ; LOC105374971
2 6 22359286 intron variant G/A snv 5.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs114050631
rs114050631 		5 2 218156235 regulatory region variant C/T snv 6.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs1144700
rs1144700
ATXN1
5 6 16744456 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs115681968
rs115681968
HLA-B ; LOC112267902
1 6 31304776 intron variant G/A snv 0.700 1.000 1 2018 2018