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: rs10906806
rs10906806
DCLRE1CP1 ; ACBD7-DCLRE1CP1
1 1.000 0.080 10 15029386 upstream gene variant T/C snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs11096688
rs11096688 		1 1.000 0.080 2 20885650 intergenic variant T/C snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs1111875
rs1111875 		10 0.776 0.360 10 92703125 intergenic variant C/T snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs11133360
rs11133360
KDR
2 0.925 0.080 4 55116585 intron variant C/T snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs11133373
rs11133373
SRD5A3
4 0.851 0.120 4 55349464 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1119997
rs1119997
LOC105375759 ; LOC105375760
1 1.000 0.080 8 131109670 intergenic variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs11212617
rs11212617
C11orf65
7 0.827 0.200 11 108412434 intron variant C/A snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs112319461
rs112319461 		1 1.000 0.080 11 116622438 intergenic variant G/A snv 3.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs11292
rs11292
HIF1AN
2 0.925 0.080 10 100553850 3 prime UTR variant A/G snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1143623
rs1143623
IL1B
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs11702450
rs11702450
MCM3AP
2 0.925 0.080 21 46283735 synonymous variant G/A snv 0.33 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1175088679
rs1175088679
CHEK2
2 0.925 0.080 22 28695764 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1189020
rs1189020
LINC02284
1 1.000 0.080 14 56410241 intron variant T/G snv 0.93 0.700 1.000 1 2019 2019
dbSNP: rs1216516227
rs1216516227
BRCA1
2 0.925 0.080 17 43094612 missense variant T/C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1264308
rs1264308
GTF2H4 ; VARS2
2 0.925 0.080 6 30912210 non coding transcript exon variant C/T snv 7.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1264457
rs1264457
HLA-E
4 0.851 0.160 6 30490287 missense variant G/A;T snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs1275678
rs1275678
GALNT16
2 0.925 0.080 14 69335147 intron variant C/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs1295683
rs1295683
TH2LCRR
1 1.000 0.080 5 132663184 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs13000023
rs13000023
LOC101928278 ; LOC105373873
4 0.851 0.080 2 217059671 downstream gene variant G/A;C;T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs13188458
rs13188458 		4 0.882 0.160 5 8127718 intergenic variant T/G snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1323697
rs1323697
ERCC5 ; BIVM-ERCC5
2 0.925 0.080 13 102845499 intron variant G/C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs13293512
rs13293512 		11 0.763 0.360 9 94167461 intron variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs13431652
rs13431652
SPC25
5 0.925 0.080 2 168896905 intron variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs13447455
rs13447455
CDC7
2 0.925 0.080 1 91500888 5 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019