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: rs201605619
rs201605619 		1 19 10236794 intergenic variant TTTTTTTTTT/-;TTT;TTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT delins 0.21 0.700 1.000 1 2018 2018
dbSNP: rs144247761
rs144247761 		1 20 23619167 intergenic variant TTTTTTT/-;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs530829730
rs530829730
NEK4
1 3 52726969 intron variant TTTTTT/-;TT;TTT;TTTT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT delins 0.44 0.700 1.000 1 2018 2018
dbSNP: rs373237642
rs373237642 		1 2 135879982 upstream gene variant TTTTTT/-;T;TT;TTTT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs533430670
rs533430670 		1 3 46597002 intron variant TTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTTT;TTTTTTTTTTTTTT delins 0.54 0.700 1.000 1 2018 2018
dbSNP: rs200329634
rs200329634
ADGRF5
1 6 46864527 intron variant TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTTTTTTT delins 0.22 0.700 1.000 1 2018 2018
dbSNP: rs56062839
rs56062839
ART3
1 4 76109246 intron variant TTTT/-;TT;TTT;TTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs11347749
rs11347749
GNPTAB
1 12 101818377 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTTTTTT delins 0.28 0.700 1.000 1 2018 2018
dbSNP: rs35495893
rs35495893
SARM1
1 17 28391881 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTTT;TTTTTTTTTTTTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs371314787
rs371314787
APEH
1 3 49672480 upstream gene variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs34097461
rs34097461
F12 ; GRK6 ; SLC34A1
1 5 177410301 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTTTTTT delins 0.52 0.700 1.000 1 2018 2018
dbSNP: rs141232332
rs141232332 		1 6 31107825 downstream gene variant TTT/-;TT;TTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs11332437
rs11332437
LIN52 ; LOC105370563
1 14 74121726 intron variant TTT/-;T;TT;TTTT;TTTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs5875463
rs5875463
MLN ; LEMD2 ; LOC105375024
1 6 33795960 intron variant TTT/-;T;TT;TTTT;TTTTT;TTTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs71793166
rs71793166
IGF2R
1 6 159974255 intron variant TTCTT/-;TTCTTTTCTT delins 6.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs67162484
rs67162484
A4GALT
1 22 42719514 intron variant TTCT/-;TTCTTTCT delins 0.41 0.700 1.000 1 2018 2018
dbSNP: rs138610068
rs138610068
KNG1
1 3 186735642 intron variant TTAA/-;TTAATTAA delins 8.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs113216780
rs113216780
LGALS9
1 17 27647575 intron variant TTA/-;TTATTA;TTATTATTA;TTATTATTATTA;TTATTATTATTATTA delins 0.700 1.000 1 2018 2018
dbSNP: rs34908328
rs34908328
IL1RAP
1 3 190627310 splice acceptor variant TT/-;T;TTT;TTTTTTTTTTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs11291564
rs11291564 		1 1 160483182 downstream gene variant TT/-;T;TTT;TTTTTTTT delins 0.80 0.700 1.000 1 2018 2018
dbSNP: rs34386380
rs34386380
SERPINF1
1 17 1765144 intron variant TT/-;T;TTT;TTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs34116314
rs34116314
UBA5 ; ACAD11 ; NPHP3-ACAD11
1 3 132656496 intron variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs112270814
rs112270814
SMPDL3A
1 6 122803985 intron variant TT/-;T;TTT;TTTT;TTTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs34309753
rs34309753
PMFBP1
1 16 72130022 intron variant TT/-;T;TTT;TTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs35505705
rs35505705
MAN1A2
1 1 117427159 intron variant TT/-;T;TTT;TTTT delins 0.700 1.000 1 2018 2018