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: rs1415701
rs1415701
L3MBTL3
3 6 130024690 intron variant G/A snv 0.31 0.700 1.000 3 2013 2019
dbSNP: rs17511102
rs17511102
CDC42EP3 ; LOC105374465
3 2 37733470 intron variant A/G;T snv 0.700 1.000 3 2010 2019
dbSNP: rs1787200
rs1787200
DYM
2 18 49061284 intron variant G/A snv 0.71 0.700 1.000 3 2011 2019
dbSNP: rs1884897
rs1884897 		5 20 6632185 regulatory region variant A/G;T snv 0.700 1.000 3 2014 2019
dbSNP: rs1926872
rs1926872 		2 1 184049341 upstream gene variant T/C snv 0.29 0.700 1.000 3 2015 2019
dbSNP: rs1950500
rs1950500 		2 14 24361644 upstream gene variant T/C snv 0.68 0.700 1.000 3 2010 2014
dbSNP: rs1991431
rs1991431
ZBTB38
4 3 141414608 intron variant G/A snv 0.50 0.700 1.000 3 2013 2019
dbSNP: rs2145272
rs2145272 		8 20 6645571 intergenic variant G/A;T snv 0.700 1.000 3 2010 2019
dbSNP: rs2282978
rs2282978
CDK6 ; LOC112268009
5 7 92635096 intron variant T/C snv 0.38 0.700 1.000 3 2008 2009
dbSNP: rs2780226
rs2780226 		3 6 34231315 regulatory region variant C/T snv 0.80 0.700 1.000 3 2010 2019
dbSNP: rs2856321
rs2856321
ETV6
2 12 11702839 intron variant G/A snv 0.52 0.700 1.000 3 2010 2014
dbSNP: rs3118905
rs3118905
DLEU1 ; DLEU7
2 13 50531198 intron variant G/A snv 0.21 0.700 1.000 3 2010 2019
dbSNP: rs3118906
rs3118906
DLEU1 ; DLEU7
2 13 50532652 intron variant G/A snv 0.21 0.700 1.000 3 2013 2019
dbSNP: rs3738814
rs3738814
ATP13A2
3 1 17005181 intron variant A/G snv 0.52 0.700 1.000 3 2010 2019
dbSNP: rs3769528
rs3769528
LTBP1
2 2 33246125 intron variant A/G snv 1.1E-02 0.700 1.000 3 2010 2019
dbSNP: rs3814333
rs3814333
COLGALT2
3 1 184037985 upstream gene variant C/T snv 0.29 0.700 1.000 3 2013 2019
dbSNP: rs41271299
rs41271299
ID4
3 6 19839184 intron variant C/A;G;T snv 0.700 1.000 3 2017 2019
dbSNP: rs422421
rs422421
FGFR4
2 5 177090325 intron variant T/C snv 0.83 0.79 0.700 1.000 3 2010 2017
dbSNP: rs4665736
rs4665736
DNAJC27
2 2 24964730 intron variant C/T snv 0.42 0.700 1.000 3 2010 2019
dbSNP: rs4800148
rs4800148
CABLES1
4 18 23144364 intron variant G/A;C snv 0.700 1.000 3 2008 2019
dbSNP: rs4821083
rs4821083
SYN3 ; LOC105373002
2 22 32660355 intron variant T/C snv 0.26 0.700 1.000 3 2010 2019
dbSNP: rs4842838
rs4842838
ADAMTSL3
3 15 83913372 missense variant G/A;T snv 1.6E-05; 0.61 0.700 1.000 3 2009 2019
dbSNP: rs4896582
rs4896582
ADGRG6
5 6 142382740 intron variant G/A snv 0.50 0.700 1.000 3 2008 2019
dbSNP: rs4986172
rs4986172
ACBD4
2 17 45138914 intron variant C/T snv 0.44 0.700 1.000 3 2010 2019
dbSNP: rs526896
rs526896
LOC107986452
2 5 135021015 intergenic variant T/A;G snv 0.700 1.000 3 2010 2015