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: rs2229188
rs2229188
CYP51A1 ; CYP51A1-AS1
1 7 92134309 missense variant A/G snv 4.3E-06 0.700 1.000 1 2015 2015
dbSNP: rs4721135
rs4721135
MAD1L1
1 7 1872586 intron variant A/G snv 0.37 0.800 1.000 1 2010 2010
dbSNP: rs4732038
rs4732038
AKR1B15
1 7 134565570 intron variant A/C snv 0.51 0.52 0.800 1.000 1 2010 2010
dbSNP: rs10957550
rs10957550
EYA1
1 8 71382353 intron variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs11574358
rs11574358
WRN
1 8 31147066 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs35262860
rs35262860
RP1
1 8 54566349 intron variant -/CT delins 0.31 0.700 1.000 1 2019 2019
dbSNP: rs1327533
rs1327533
SVEP1
1 9 110368883 intron variant T/G snv 8.7E-02 0.800 1.000 1 2010 2010
dbSNP: rs4745062
rs4745062
TRPM3
1 9 71169348 intron variant C/T snv 0.40 0.800 1.000 1 2010 2010
dbSNP: rs7039467
rs7039467
CDKN2B-AS1
1 9 22056214 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7874142
rs7874142
COL5A1
1 9 134812936 intron variant G/A snv 0.62 0.800 1.000 1 2010 2010
dbSNP: rs2031577
rs2031577 		1 10 4007811 intergenic variant A/G snv 0.53 0.800 1.000 1 2010 2010
dbSNP: rs61856137
rs61856137
AKR1C3 ; LOC107984198
1 10 5045786 intron variant G/T snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs7894051
rs7894051
ECHS1
1 10 133370917 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs9664222
rs9664222 		1 10 87578876 intergenic variant A/C snv 0.84 0.800 1.000 1 2010 2010
dbSNP: rs4639950
rs4639950
MFRP ; C1QTNF5
1 11 119345845 missense variant T/C snv 4.0E-03 1.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs739401
rs739401
CARS1
2 11 3015094 intron variant C/T snv 0.45 0.800 1.000 1 2010 2010
dbSNP: rs2292664
rs2292664
RIMBP2
1 12 130437119 missense variant G/A;C snv 9.2E-06; 5.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs3847687
rs3847687
ADGRD1
1 12 131040508 intron variant C/A;T snv 0.35 0.800 1.000 1 2010 2010
dbSNP: rs6489785
rs6489785 		3 1.000 0.040 12 120925921 TF binding site variant T/C snv 0.68 0.800 1.000 1 2010 2010
dbSNP: rs7315621
rs7315621 		1 12 131600651 upstream gene variant G/A snv 0.41 0.800 1.000 1 2010 2010
dbSNP: rs2440012
rs2440012
ANKRD20A9P
1 13 18865983 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2882281
rs2882281 		1 13 89970201 intergenic variant C/A;G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs3106598
rs3106598 		1 13 61104778 intron variant G/A snv 0.43 0.800 1.000 1 2010 2010
dbSNP: rs4148546
rs4148546
ABCC4
1 13 95028031 intron variant G/A snv 0.55 0.800 1.000 1 2010 2010
dbSNP: rs9517320
rs9517320
STK24
1 13 98474049 intron variant A/C snv 0.55 0.800 1.000 1 2010 2010