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: rs576853093
rs576853093
MTHFR
1 1 11790946 intron variant -/C;CACACACACACAC ins 6.2E-03 0.700 1.000 1 2011 2011
dbSNP: rs10143078
rs10143078
COX16 ; SYNJ2BP ; SYNJ2BP-COX16
2 14 70414772 intron variant A/C snv 6.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs17030613
rs17030613
CAPZA1
7 1 112648185 intron variant A/C snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs17031508
rs17031508
BANK1
1 4 101639133 intron variant A/C snv 8.6E-02 0.800 1.000 1 2012 2012
dbSNP: rs2241113
rs2241113
RRM2
1 2 10135619 intron variant A/C snv 0.59 0.700 1.000 1 2011 2011
dbSNP: rs2293947
rs2293947
EEFSEC
2 1.000 0.040 3 128378653 intron variant A/C snv 8.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs3958726
rs3958726
POC1B
1 12 89463646 intron variant A/C snv 0.72 0.700 1.000 1 2011 2011
dbSNP: rs61781370
rs61781370 		2 1.000 0.040 1 39579628 upstream gene variant A/C snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs6495122
rs6495122 		6 1.000 0.040 15 74833304 downstream gene variant A/C snv 0.44 0.700 1.000 1 2011 2011
dbSNP: rs1492840
rs1492840 		1 4 45764988 intergenic variant A/C;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2521501
rs2521501
FES
10 0.925 0.080 15 90894158 intron variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs16948048
rs16948048
ZNF652 ; LOC102724596
8 0.925 0.040 17 49363104 intron variant A/G snv 0.37 0.700 1.000 2 2011 2011
dbSNP: rs17367504
rs17367504
MTHFR
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 2 2011 2011
dbSNP: rs2681472
rs2681472
ATP2B1
9 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.700 1.000 2 2011 2011
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.700 1.000 1 2011 2011
dbSNP: rs11105354
rs11105354
ATP2B1
3 12 89632746 intron variant A/G snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs1173771
rs1173771 		9 5 32814922 regulatory region variant A/G snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs11816631
rs11816631 		1 10 97802815 intergenic variant A/G snv 8.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs13002573
rs13002573 		3 2 164058698 intron variant A/G snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs13040716
rs13040716 		2 1.000 0.040 20 32182402 downstream gene variant A/G snv 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs1327235
rs1327235 		7 20 10988382 intron variant A/G snv 0.46 0.700 1.000 1 2011 2011
dbSNP: rs16833934
rs16833934 		3 3 164019462 intergenic variant A/G snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs17512592
rs17512592 		1 11 55922766 intergenic variant A/G snv 5.8E-02 0.700 1.000 1 2011 2011
dbSNP: rs17530228
rs17530228 		1 11 56081680 upstream gene variant A/G snv 6.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs17610514
rs17610514 		1 11 56128322 downstream gene variant A/G snv 6.0E-02 0.700 1.000 1 2011 2011