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: rs1048369
rs1048369
GPC4
4 0.882 0.160 X 133303309 missense variant G/A snv 0.33 0.38 0.010 1.000 1 2019 2019
dbSNP: rs1062630
rs1062630
POU5F1
1 6 31170330 synonymous variant G/A snv 0.18 0.22 0.700 1.000 1 2017 2017
dbSNP: rs1161098
rs1161098
LINC02408 ; LOC105369812
1 12 67453680 intron variant G/A snv 0.84 0.700 1.000 1 2017 2017
dbSNP: rs116671518
rs116671518
DKK2
1 4 107189709 intron variant T/C snv 1.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs12154141
rs12154141 		1 6 62460168 downstream gene variant A/C snv 0.20 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: rs138117677
rs138117677 		1 16 3348899 TF binding site variant GGGACT/- delins 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs200655768
rs200655768
TTN ; TTN-AS1
1 2 178711222 synonymous variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs2153486
rs2153486 		1 14 87737048 intron variant C/T snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs314879
rs314879 		1 13 22735243 intergenic variant C/T snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs5861895
rs5861895 		1 4 129344228 regulatory region variant TT/-;T;TTT delins 0.700 1.000 1 2017 2017
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: rs62309385
rs62309385 		1 4 136134743 intron variant G/C snv 9.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs6797827
rs6797827 		1 3 109735523 intron variant C/T snv 0.18 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: rs10885
rs10885
PRRC2A
1 6 31636814 missense variant C/T snv 0.14 0.17 0.700 1.000 1 2013 2013
dbSNP: rs10947261
rs10947261
BTNL2 ; TSBP1-AS1
4 0.882 0.240 6 32405455 splice region variant G/T snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs10947262
rs10947262
BTNL2 ; TSBP1-AS1
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 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: rs200688486
rs200688486 		1 6 32621223 regulatory region variant -/T delins 0.700 1.000 1 2013 2013
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