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: rs200655768
rs200655768
TTN ; TTN-AS1
1 2 178711222 synonymous variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12759054
rs12759054
SLC35F3
3 1.000 0.040 1 233984064 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs80274284
rs80274284
SLC22A15
1 1 116037356 missense variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2015 2015
dbSNP: rs2736157
rs2736157
PRRC2A ; MIR6832
2 1.000 0.120 6 31633043 intron variant A/G;T snv 0.15 0.17 0.700 1.000 1 2013 2013
dbSNP: rs3115663
rs3115663
PRRC2A ; MIR6832
7 0.827 0.360 6 31634066 non coding transcript exon variant T/C snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs10885
rs10885
PRRC2A
1 6 31636814 missense variant C/T snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs11229
rs11229
PRRC2A
6 0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs3130070
rs3130070
PRRC2A
1 6 31624031 intron variant A/G snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs3130623
rs3130623
PRRC2A
1 6 31629923 intron variant C/T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs3130626
rs3130626
PRRC2A
2 1.000 0.120 6 31630712 synonymous variant A/G snv 0.15 0.17 0.700 1.000 1 2013 2013
dbSNP: rs1062630
rs1062630
POU5F1
1 6 31170330 synonymous variant G/A snv 0.18 0.22 0.700 1.000 1 2017 2017
dbSNP: rs204992
rs204992
PBX2
1 6 32189131 intron variant G/A snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs204994
rs204994
PBX2
4 0.925 0.120 6 32187221 non coding transcript exon variant C/T snv 0.18 0.21 0.700 1.000 1 2013 2013
dbSNP: rs204995
rs204995
PBX2
2 1.000 0.120 6 32186508 non coding transcript exon variant A/G snv 0.21 0.27 0.700 1.000 1 2013 2013
dbSNP: rs594418
rs594418
NRG3
1 10 82625296 intron variant G/A snv 0.83 0.700 1.000 1 2017 2017
dbSNP: rs6105452
rs6105452
MACROD2
1 20 15683126 intron variant C/T snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs9267536
rs9267536
LY6G5C ; LOC105375019
1 6 31683417 intron variant A/C snv 5.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs1161098
rs1161098
LINC02408 ; LOC105369812
1 12 67453680 intron variant G/A snv 0.84 0.700 1.000 1 2017 2017
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs2395185
rs2395185
HLA-DRB9
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs9268832
rs9268832
HLA-DRB9
4 0.882 0.160 6 32460012 non coding transcript exon variant T/C snv 0.61 0.59 0.700 1.000 1 2013 2013
dbSNP: rs9268853
rs9268853
HLA-DRB9
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs9368726
rs9368726
HLA-DRB9
1 6 32470765 intron variant T/C snv 0.29 0.700 1.000 1 2013 2013
dbSNP: rs9405108
rs9405108
HLA-DRB9
1 6 32470871 intron variant C/T snv 0.29 0.700 1.000 1 2013 2013