Source: BEFREE ×
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: rs3764261
rs3764261 		11 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.860 1.000 6 2010 2018
dbSNP: rs12678919
rs12678919 		2 0.882 0.080 8 19986711 intergenic variant A/G snv 1.0E-01 0.040 0.750 4 2014 2019
dbSNP: rs1024611
rs1024611 		59 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.020 1.000 2 2016 2018
dbSNP: rs112000638
rs112000638 		2 0.925 0.160 11 131359434 intergenic variant T/C snv 8.7E-03 0.010 1.000 1 2014 2014
dbSNP: rs1120638
rs1120638 		1 1.000 0.040 Y 3649707 intergenic variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs13119914
rs13119914 		2 0.925 0.160 4 177053703 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1463729
rs1463729 		3 0.925 0.120 9 124119169 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs148553336
rs148553336 		1 0.851 0.040 1 196644043 intergenic variant T/C snv 7.7E-03 0.710 1.000 1 2016 2018
dbSNP: rs16840639
rs16840639 		2 0.925 0.120 1 196855643 intron variant T/C snv 0.23 0.710 1.000 1 2013 2013
dbSNP: rs17073641
rs17073641 		1 1.000 0.040 18 64751208 intergenic variant A/C snv 0.41 0.710 1.000 1 2013 2013
dbSNP: rs2649663
rs2649663 		1 1.000 0.040 11 57589832 intergenic variant G/A snv 0.81 0.010 < 0.001 1 2012 2012
dbSNP: rs3093077
rs3093077 		8 0.827 0.200 1 159709846 upstream gene variant A/C;G;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs4351376
rs4351376 		1 1.000 0.040 7 51520352 intron variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs4351379
rs4351379 		1 1.000 0.040 7 54239886 intron variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4660687
rs4660687 		1 1.000 0.040 1 42911868 intergenic variant A/C snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs6667243
rs6667243 		1 1.000 0.040 1 196972363 downstream gene variant T/C snv 0.62 0.710 1.000 1 2011 2013
dbSNP: rs699946
rs699946 		2 0.925 0.160 6 43764932 regulatory region variant A/G snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs7624556
rs7624556 		2 0.925 0.160 3 146965885 intron variant G/A snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs7890586
rs7890586 		1 1.000 0.040 X 100582827 upstream gene variant G/A snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs1883025
rs1883025
ABCA1
4 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.740 0.600 4 2011 2018
dbSNP: rs1800553
rs1800553
ABCA4
13 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.060 0.833 6 1999 2019
dbSNP: rs1800555
rs1800555
ABCA4
1 1.000 0.040 1 93998061 missense variant C/T snv 1.1E-02 1.0E-02 0.030 0.667 3 2000 2015
dbSNP: rs1800549
rs1800549
ABCA4
1 0.925 0.040 1 94030497 missense variant G/A snv 4.6E-03 1.6E-03 0.010 1.000 1 1999 1999
dbSNP: rs61750120
rs61750120
ABCA4
3 0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04 0.010 1.000 1 1999 1999
dbSNP: rs61750200
rs61750200
ABCA4
4 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.010 1.000 1 1999 1999