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: rs10126261
rs10126261
SPANXA2-OT1
1 X 141236182 intron variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs10948810
rs10948810
TINAG
1 6 54311429 intron variant C/T snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1133104
rs1133104
CLEC4A
2 1.000 0.120 12 8138526 3 prime UTR variant T/G snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs11727234
rs11727234 		1 4 95886824 intergenic variant G/A snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs11877326
rs11877326 		1 18 58836324 downstream gene variant A/C snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs12922822
rs12922822
UMOD
5 1.000 0.040 16 20356323 upstream gene variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs13095954
rs13095954
TBC1D5 ; LOC339862
1 3 18066632 intron variant C/G snv 8.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs13335236
rs13335236
PPL ; LOC105371064
1 16 4905255 intron variant T/C snv 8.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs142735410
rs142735410
LINC01599 ; LINC01588
1 14 50016710 intron variant TTTTTTTTTTTT/-;T;TT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs1445002
rs1445002
LOC105374736
1 5 40319775 intergenic variant C/A snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs145942932
rs145942932
TEKT5
1 16 10652766 intron variant ACACACACACACACACAC/-;AC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC delins 0.52 0.700 1.000 1 2018 2018
dbSNP: rs1538101
rs1538101
BNC2
1 9 16710872 intron variant A/G snv 0.90 0.700 1.000 1 2018 2018
dbSNP: rs17310107
rs17310107 		1 7 25427204 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2800342
rs2800342 		1 9 30183555 intergenic variant T/A snv 0.91 0.700 1.000 1 2018 2018
dbSNP: rs2869546
rs2869546
CHRNA3
5 0.851 0.120 15 78615003 intron variant C/T snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs34927688
rs34927688 		1 8 8765284 intron variant C/G snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs35940501
rs35940501 		1 2 17415423 intergenic variant C/T snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs3900809
rs3900809
PLG
1 6 160714170 intron variant C/T snv 9.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs55684444
rs55684444
LILRA4
1 19 54336700 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs55946466
rs55946466
LINC00319
1 21 43451268 non coding transcript exon variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs56160206
rs56160206
LINC02731
1 11 134052045 intron variant A/-;AA;AAA delins 0.700 1.000 1 2018 2018
dbSNP: rs56276612
rs56276612 		1 5 40427283 intron variant G/T snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs57900878
rs57900878 		1 14 33807301 downstream gene variant C/G snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs6583326
rs6583326 		1 3 196590437 downstream gene variant T/C snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs66549549
rs66549549
LOC101927404
1 18 64961187 intron variant G/A snv 0.19 0.700 1.000 1 2018 2018