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: rs633185
rs633185
ARHGAP42
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.800 1.000 2 2011 2019
dbSNP: rs604723
rs604723
ARHGAP42
9 1.000 0.040 11 100739815 intron variant T/C snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs17365948
rs17365948
YWHAZ
2 8 100944649 intron variant C/T snv 4.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs2241113
rs2241113
RRM2
1 2 10135619 intron variant A/C snv 0.59 0.700 1.000 1 2011 2011
dbSNP: rs2110641
rs2110641
RRM2
1 2 10151287 intron variant G/C snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs10197121
rs10197121
RRM2
1 2 10153562 intron variant C/T snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs13424629
rs13424629
RRM2
1 2 10156359 intron variant T/C snv 0.15 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: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 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: rs3824755
rs3824755
CYP17A1
5 0.925 0.120 10 102836092 intron variant G/A;C;T snv 0.700 1.000 2 2011 2013
dbSNP: rs12416687
rs12416687
AS3MT ; BORCS7-ASMT
2 10 102869254 intron variant T/C snv 0.21 0.700 1.000 1 2014 2014
dbSNP: rs4403412
rs4403412
MSRA
1 8 10295771 intron variant T/C snv 0.73 0.700 1.000 1 2011 2011
dbSNP: rs11191548
rs11191548
CNNM2
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.700 1.000 3 2011 2011
dbSNP: rs17296765
rs17296765
AMPD3 ; CAND1.11
1 11 10310742 intron variant G/T snv 0.10 0.700 1.000 1 2011 2011
dbSNP: rs11191593
rs11191593
NT5C2
4 10 103179458 intron variant T/C snv 9.0E-02 0.700 1.000 2 2011 2013
dbSNP: rs7129220
rs7129220
AMPD3 ; CAND1.11
5 11 10328991 intron variant G/A snv 0.10 0.700 1.000 1 2011 2011
dbSNP: rs6892243
rs6892243 		1 5 104843088 intron variant G/A snv 9.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs17477177
rs17477177 		4 1.000 0.080 7 106771412 upstream gene variant T/C snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs880315
rs880315
CASZ1
9 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs4638749
rs4638749 		2 2 108267586 downstream gene variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs7984522
rs7984522
MYO16
1 13 108695311 intron variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs1327235
rs1327235 		7 20 10988382 intron variant A/G snv 0.46 0.700 1.000 1 2011 2011
dbSNP: rs6825911
rs6825911
ENPEP
3 4 110460482 intron variant C/T snv 0.68 0.700 1.000 1 2011 2011
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2011 2011