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: rs2958557
rs2958557
SH2D4A ; LOC102724881
1 8 19394168 intron variant T/C snv 1.00 0.700 1.000 1 2018 2018
dbSNP: rs4758675
rs4758675
DIABLO ; B3GNT4
1 12 122207191 missense variant C/A;G snv 1.00 0.99 0.700 1.000 1 2019 2019
dbSNP: rs370911
rs370911
NOS1AP
6 1 162323515 intron variant A/G snv 0.99 0.700 1.000 1 2012 2012
dbSNP: rs7955371
rs7955371
WNK1
1 12 885321 missense variant G/C snv 1.00 0.99 0.700 1.000 1 2012 2012
dbSNP: rs7100433
rs7100433
ECHS1
3 10 133370298 intron variant T/C snv 0.98 0.700 1.000 1 2012 2012
dbSNP: rs2321168
rs2321168
STARD13 ; STARD13-AS
4 13 33279354 non coding transcript exon variant G/A snv 0.98 0.700 1.000 1 2012 2012
dbSNP: rs675504
rs675504 		5 11 102959002 upstream gene variant A/G snv 0.98 0.700 1.000 1 2012 2012
dbSNP: rs10919021
rs10919021
NOS1AP
1 1 162265600 intron variant C/T snv 0.97 0.700 1.000 1 2012 2012
dbSNP: rs2756231
rs2756231
SORCS1
1 10 106706654 intron variant C/T snv 0.98 0.97 0.700 1.000 1 2012 2012
dbSNP: rs453789
rs453789
HDAC5 ; LOC105371789
1 17 44118647 intron variant A/C snv 0.97 0.700 1.000 1 2012 2012
dbSNP: rs567279
rs567279
PDE4B
4 1 66222346 intron variant G/T snv 0.97 0.700 1.000 1 2012 2012
dbSNP: rs11784828
rs11784828
MSRA
1 8 10333788 intron variant T/G snv 0.97 0.700 1.000 1 2012 2012
dbSNP: rs6561821
rs6561821
STARD13
1 13 33287048 intron variant A/T snv 0.97 0.700 1.000 1 2012 2012
dbSNP: rs1337068
rs1337068
NOS1AP ; LOC105371475
1 1 162163356 intron variant G/A snv 0.96 0.700 1.000 1 2012 2012
dbSNP: rs1572521
rs1572521
COL11A1
1 1 103097312 intron variant T/G snv 0.96 0.700 1.000 1 2012 2012
dbSNP: rs480392
rs480392
NTNG1
3 1 107436774 synonymous variant A/C snv 0.99 0.95 0.700 1.000 1 2012 2012
dbSNP: rs2581473
rs2581473
MEF2A
1 15 99656452 intron variant A/G snv 0.95 0.700 1.000 1 2012 2012
dbSNP: rs222826
rs222826 		16 0.851 0.120 2 146120964 regulatory region variant T/C snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs7190256
rs7190256
ZFHX3
16 0.851 0.120 16 72963084 intron variant C/T snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs4233488
rs4233488 		1 1 41315341 intron variant T/C snv 0.94 0.700 1.000 1 2012 2012
dbSNP: rs2072560
rs2072560
ZPR1 ; APOA5
5 11 116791110 missense variant T/C snv 0.89 0.94 0.700 1.000 1 2012 2012
dbSNP: rs6726798
rs6726798
VIL1
3 2 218436132 intron variant A/C snv 0.94 0.700 1.000 1 2012 2012
dbSNP: rs6589565
rs6589565
BUD13
5 11 116769521 intron variant A/G snv 0.93 0.700 1.000 2 2012 2012
dbSNP: rs10790162
rs10790162
BUD13
7 0.882 0.160 11 116768388 intron variant A/G;T snv 0.93 0.800 1.000 3 2011 2019
dbSNP: rs7350481
rs7350481 		8 0.882 0.040 11 116715567 regulatory region variant T/C snv 0.93 0.700 1.000 5 2010 2019