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: rs2281680
rs2281680
AP1G2 ; LOC102724814
2 14 23563861 splice region variant C/T snv 0.18 0.13 0.700 1.000 1 2011 2011
dbSNP: rs2389202
rs2389202 		2 4 116333133 intergenic variant A/T snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs2824292
rs2824292 		3 0.925 0.080 21 17414857 regulatory region variant G/A snv 0.47 0.700 1.000 1 2011 2011
dbSNP: rs2982694
rs2982694
ESR1
2 6 151964552 intron variant G/T snv 0.86 0.700 1.000 1 2011 2011
dbSNP: rs4621553
rs4621553
LOC107986441
2 5 113694467 intergenic variant G/A snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs4665058
rs4665058
BAZ2B
2 2 159333698 intron variant A/C snv 0.90 0.700 1.000 1 2011 2011
dbSNP: rs54211
rs54211 		2 22 39291479 upstream gene variant A/G snv 0.90 0.700 1.000 1 2011 2011
dbSNP: rs597503
rs597503 		3 18 6939948 upstream gene variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs6716724
rs6716724 		2 2 11370822 intergenic variant A/G snv 0.82 0.700 1.000 1 2011 2011
dbSNP: rs6730157
rs6730157
RAB3GAP1 ; ZRANB3
1 2 135149518 intron variant A/G snv 0.60 0.700 1.000 1 2013 2013
dbSNP: rs6964415
rs6964415 		2 7 46202985 intergenic variant T/A;C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs7157599
rs7157599
DEGS2
6 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 0.700 1.000 1 2011 2011
dbSNP: rs7307780
rs7307780
LOC105369844
2 12 75826838 intron variant C/T snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs950776
rs950776
CHRNB4
3 1.000 0.080 15 78633676 intron variant T/C snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs9581094
rs9581094
PARP4 ; TPTE2P6 ; LOC105370117
2 13 24508492 intron variant T/C snv 0.13 0.700 1.000 1 2011 2011