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: rs1044396
rs1044396
CHRNA4
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs121912654
rs121912654
TP53
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2020 2020
dbSNP: rs139600787
rs139600787
PRKN
3 0.882 0.080 6 161785882 missense variant T/C snv 1.6E-05 4.2E-05 0.010 < 0.001 1 2020 2020
dbSNP: rs2229959
rs2229959
CHRNA4
3 0.882 0.080 20 63350202 synonymous variant C/A;T snv 0.84; 1.3E-05 0.010 1.000 1 2020 2020
dbSNP: rs2239611
rs2239611
ST6GAL1
3 0.882 0.080 3 187075914 3 prime UTR variant G/A snv 1.5E-02 0.010 1.000 1 2020 2020
dbSNP: rs2284749
rs2284749
ST6GAL1
3 0.882 0.080 3 187076315 3 prime UTR variant G/A snv 0.22 0.010 1.000 1 2020 2020
dbSNP: rs483352697
rs483352697
TP53
21 0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs756402191
rs756402191
PLAU ; C10orf55
3 0.882 0.080 10 73913605 missense variant G/A;T snv 1.2E-04; 4.0E-05 0.010 1.000 1 2020 2020
dbSNP: rs776983107
rs776983107
TFEB
3 0.882 0.080 6 41687764 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs778009684
rs778009684
PINK1 ; PINK1-AS
3 0.882 0.080 1 20644539 missense variant C/T snv 2.8E-05 1.4E-05 0.010 < 0.001 1 2020 2020
dbSNP: rs6068816
rs6068816
CYP24A1
12 0.752 0.200 20 54164552 synonymous variant C/T snv 0.12 8.9E-02 0.020 1.000 2 2019 2019
dbSNP: rs10053847
rs10053847
IL7R
3 0.882 0.080 5 35878038 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs10054203
rs10054203
TERT
3 0.882 0.080 5 1279849 intron variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10213865
rs10213865
IL7R ; LOC105374724
5 0.827 0.120 5 35857748 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1026411
rs1026411
PCAT1 ; LOC105375751
5 0.827 0.080 8 127014165 intron variant G/A;C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs10421768
rs10421768
HAMP
6 0.807 0.120 19 35281996 intron variant A/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1042711
rs1042711
ADRB2
5 0.827 0.120 5 148826785 5 prime UTR variant C/A;G;T snv 4.2E-06; 0.68 0.010 1.000 1 2019 2019
dbSNP: rs1043994
rs1043994
NOTCH3
7 0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85 0.010 1.000 1 2019 2019
dbSNP: rs1046175
rs1046175
PAOX
4 0.851 0.080 10 133391446 stop gained C/A;G;T snv 1.2E-05; 0.88 0.010 1.000 1 2019 2019
dbSNP: rs10519717
rs10519717
LOC105377462
4 0.851 0.080 4 144559188 intron variant T/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1057519784
rs1057519784
ALK
7 0.827 0.080 2 29220765 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1064607
rs1064607
LPP
5 0.827 0.200 3 188877884 3 prime UTR variant G/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs1065852
rs1065852
CYP2D6 ; NDUFA6-DT ; LOC112268294
19 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2019 2019
dbSNP: rs10680577
rs10680577
EGLN2 ; RAB4B-EGLN2
10 0.776 0.160 19 40798690 intron variant -/TACT delins 0.010 1.000 1 2019 2019
dbSNP: rs11137037
rs11137037
ANGPT2 ; MCPH1
4 0.851 0.200 8 6538661 intron variant A/C snv 0.40 0.010 1.000 1 2019 2019