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: rs1985671
rs1985671
FBLN1
2 1.000 0.040 22 45566024 intron variant G/T snv 0.65 0.700 1.000 1 2012 2012
dbSNP: rs17190927
rs17190927
SPTLC3 ; TASP1
1 20 13143086 intron variant T/C;G snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs877600
rs877600
KIAA1755
1 20 38234638 intron variant G/A snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs10410977
rs10410977
RAVER1
1 19 10332578 intron variant C/A snv 3.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs644148
rs644148 		1 19 44466713 upstream gene variant G/T snv 0.30 0.800 1.000 1 2010 2010
dbSNP: rs10853545
rs10853545
PIAS2
1 18 46895257 intron variant A/T snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs1539878
rs1539878
KATNAL2
1 18 46943041 intron variant T/C snv 0.53 0.700 1.000 1 2012 2012
dbSNP: rs2032215
rs2032215
PIAS2
1 18 46859048 intron variant A/C snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs2156050
rs2156050
PIAS2
1 18 46875910 intron variant A/G snv 0.53 0.700 1.000 1 2012 2012
dbSNP: rs2246877
rs2246877
KATNAL2
1 18 47050634 intron variant A/G snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs2247578
rs2247578
SKOR2
1 18 47218685 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2247777
rs2247777
SKOR2
1 18 47220368 intron variant C/G snv 0.54 0.700 1.000 1 2012 2012
dbSNP: rs2510444
rs2510444 		1 18 46796886 intron variant G/T snv 0.51 0.700 1.000 1 2012 2012
dbSNP: rs2571034
rs2571034
KATNAL2
1 18 47052194 intron variant A/G snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs2576037
rs2576037
KATNAL2
1 18 47059049 intron variant C/T snv 0.41 0.700 1.000 1 2012 2012
dbSNP: rs2668778
rs2668778
SKOR2
1 18 47218814 intron variant A/C snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs2684814
rs2684814
SKOR2
1 18 47227732 intron variant T/C snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs4890341
rs4890341
PIAS2
1 18 46887405 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs4890707
rs4890707
PIAS2 ; KATNAL2
1 18 46917761 5 prime UTR variant C/G snv 0.53 0.700 1.000 1 2012 2012
dbSNP: rs4986228
rs4986228
KATNAL2
1 18 47068888 intron variant G/A snv 0.68 0.700 1.000 1 2012 2012
dbSNP: rs509647
rs509647
PIAS2
1 18 46803712 3 prime UTR variant G/T snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs538221
rs538221
LOC105372097
1 18 46795148 intron variant G/A snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs557661
rs557661
LOC105372097
1 18 46785694 intron variant A/G snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs605487
rs605487
PIAS2
1 18 46864815 intron variant G/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs607780
rs607780
PIAS2
1 18 46837493 intron variant C/T snv 0.53 0.700 1.000 1 2012 2012