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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.700 1.000 1 2016 2016
dbSNP: rs3735485
rs3735485
MYO1G
6 7 44969742 missense variant A/G snv 0.87 0.88 0.700 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2016 2016
dbSNP: rs14408
rs14408
IFITM2
4 11 308314 missense variant T/C;G snv 0.53 0.700 1.000 1 2016 2016
dbSNP: rs930232
rs930232
CNN2
1 19 1036019 intron variant G/A;C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs4760
rs4760
PLAUR
8 1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11 0.700 1.000 1 2016 2016
dbSNP: rs1800961
rs1800961
HNF4A
21 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs34599082
rs34599082
ACKR1 ; CADM3-AS1
8 1 159205704 missense variant C/T snv 1.1E-02 9.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs56378716
rs56378716
MPO
6 1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs150813342
rs150813342
GFI1B
9 9 132989126 synonymous variant C/T snv 4.1E-03 4.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs143034248
rs143034248
JAML
7 11 118210555 missense variant C/T snv 4.0E-03 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs55799208
rs55799208
CXCR2
5 2 218135259 missense variant G/A snv 1.4E-03 1.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs10075801
rs10075801
SLC22A4 ; MIR3936HG
5 5 132341949 intron variant A/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs10138752
rs10138752
RAD51B
5 14 68713254 intron variant C/T snv 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs10173538
rs10173538
BAZ2B ; MARCHF7
5 2 159712765 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10206089
rs10206089 		4 2 61476184 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1025687
rs1025687
MAPK4
3 18 50621423 intron variant T/C snv 0.61 0.700 1.000 1 2016 2016
dbSNP: rs10409243
rs10409243
DNMT1 ; S1PR2
6 19 10222312 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10858740
rs10858740 		5 12 88451258 intergenic variant A/G;T snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs10995477
rs10995477
JMJD1C
4 10 63250912 intron variant T/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs111930700
rs111930700
ACVR1B
4 12 51967869 intron variant C/G snv 8.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs11361923
rs11361923
NOXRED1
4 14 77396337 intron variant C/- delins 0.54 0.700 1.000 1 2016 2016
dbSNP: rs113977268
rs113977268
CASC15 ; LOC105374971
2 6 22359286 intron variant G/A snv 5.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs114050631
rs114050631 		5 2 218156235 regulatory region variant C/T snv 6.9E-03 0.700 1.000 1 2016 2016