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: rs12449852
rs12449852
CDK12
3 1.000 0.080 17 39475835 intron variant A/G snv 0.79 0.700 1.000 1 2011 2011
dbSNP: rs12494314
rs12494314
ARHGAP31
2 0.925 0.160 3 119403973 intron variant T/C snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs12531711
rs12531711
TNPO3
5 0.827 0.200 7 128977412 intron variant A/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs12539476
rs12539476
TNPO3
1 1.000 0.080 7 129017429 intron variant T/C snv 9.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs12627970
rs12627970 		2 1.000 0.080 22 39325740 TF binding site variant A/G snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs1448427
rs1448427
ITGAV
2 0.925 0.080 2 186661945 intron variant G/A snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs1539414
rs1539414
DENND1B
1 1.000 0.080 1 197774376 intron variant G/A snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs16841904
rs16841904
DENND1B
6 0.807 0.160 1 197732862 intron variant C/T snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs17129789
rs17129789
IL12RB2
2 0.925 0.080 1 67324915 intron variant T/C snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs1726773
rs1726773
SPIB
1 1.000 0.080 19 50424313 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs2014842
rs2014842
RPL3
1 1.000 0.080 22 39313004 non coding transcript exon variant G/A snv 0.23 0.16 0.700 1.000 1 2011 2011
dbSNP: rs2069443
rs2069443
CDK5 ; SLC4A2
2 1.000 0.080 7 151058086 intron variant T/G snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs2076125
rs2076125
RPL3 ; SNORD83A ; SNORD83B
1 1.000 0.080 22 39315346 intron variant A/G snv 0.27 0.19 0.700 1.000 1 2011 2011
dbSNP: rs2208397
rs2208397
RAD51B
1 1.000 0.080 14 68286570 intron variant T/G snv 0.68 0.700 1.000 1 2011 2011
dbSNP: rs2286896
rs2286896
NAB1
1 1.000 0.080 2 190670850 intron variant T/C snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs2302073
rs2302073
FBXL20
1 1.000 0.080 17 39301089 intron variant A/G snv 0.18 0.23 0.700 1.000 1 2011 2011
dbSNP: rs2303933
rs2303933
SLC4A2
1 1.000 0.080 7 151069712 intron variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs2303937
rs2303937
SLC4A2
1 1.000 0.080 7 151071699 synonymous variant G/A;C snv 0.48; 8.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs2303941
rs2303941
SLC4A2 ; FASTK
1 1.000 0.080 7 151076200 non coding transcript exon variant T/C snv 3.0E-02 3.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs231777
rs231777
CTLA4
2 0.925 0.120 2 203868865 intron variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs2879258
rs2879258
LOC101929578
1 1.000 0.080 17 39243126 intron variant G/T snv 0.87 0.700 1.000 1 2011 2011
dbSNP: rs3128966
rs3128966
HLA-DPB1
1 1.000 0.080 6 33088169 3 prime UTR variant G/A snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs3213989
rs3213989
PRICKLE1
1 1.000 0.080 12 42469999 non coding transcript exon variant G/A snv 0.33 0.700 1.000 1 2011 2011
dbSNP: rs3784099
rs3784099
RAD51B
6 0.807 0.320 14 68283210 intron variant G/A snv 0.43 0.700 1.000 1 2011 2011
dbSNP: rs3911238
rs3911238
ITGAV
2 0.925 0.200 2 186605617 intron variant G/C snv 0.22 0.010 1.000 1 2011 2011