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: rs9912468
rs9912468
PRKCA
3 17 66322239 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs3825214
rs3825214
TBX5
8 0.851 0.080 12 114357638 intron variant G/A snv 0.77 0.700 1.000 2 2010 2016
dbSNP: rs10850409
rs10850409 		2 12 114943935 intergenic variant G/A snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs11848785
rs11848785
SIPA1L1
2 14 71590638 intron variant G/A snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs13165478
rs13165478 		3 5 154489480 upstream gene variant G/A snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs13185595
rs13185595 		1 5 154492610 upstream gene variant G/A snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs1362212
rs1362212 		2 7 35265695 intergenic variant G/A snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs1408224
rs1408224
LRCH1
1 13 46641083 intron variant G/A snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs2025096
rs2025096
GSS
3 20 34952197 5 prime UTR variant G/A snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs242562
rs242562
MAPT
2 1.000 0.040 17 45949373 intron variant G/A snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs2997447
rs2997447
TRIM63
1 1 26060932 intron variant G/A snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs7283707
rs7283707
USP25
1 21 15754675 intron variant G/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs7918405
rs7918405
VTI1A
1 10 112745706 intron variant G/A snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs10853525
rs10853525
SETBP1
1 18 44856687 intron variant C/T snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs12039739
rs12039739 		1 1 115790490 regulatory region variant C/T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs3770770
rs3770770
STRN
1 2 36965723 intron variant C/T snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs3777755
rs3777755
HIVEP1
1 6 12159466 intron variant C/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs3929778
rs3929778
CASC20
1 20 6479643 intron variant C/T snv 0.84 0.700 1.000 1 2016 2016
dbSNP: rs6968945
rs6968945 		1 7 46601302 intergenic variant C/T snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs728926
rs728926
KLF12
2 13 73938985 intron variant C/T snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs9851724
rs9851724 		2 3 38678444 intergenic variant C/T snv 0.73 0.700 1.000 1 2016 2016
dbSNP: rs991014
rs991014
SETBP1
2 18 44859921 intron variant C/T snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs883079
rs883079
TBX5
3 1.000 0.080 12 114355435 3 prime UTR variant C/G;T snv 1.8E-05; 0.61 0.700 1.000 1 2016 2016
dbSNP: rs359466
rs359466
CPEB4
1 5 173888863 5 prime UTR variant C/G snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs1321311
rs1321311 		15 0.742 0.160 6 36655123 regulatory region variant C/A snv 0.28 0.700 1.000 2 2010 2016