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: 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
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2019 2019
dbSNP: rs11466353
rs11466353
TGFB1
4 0.851 0.160 19 41333933 intron variant G/T snv 4.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs115510139
rs115510139
COL6A3
6 0.827 0.120 2 237331726 intron variant A/T snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs11658063
rs11658063
HNF1B
5 0.851 0.120 17 37743881 intron variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs118137916
rs118137916
IL7R
3 0.882 0.080 5 35863436 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs121913240
rs121913240
KRAS
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs121917737
rs121917737
SFTPA2
5 0.827 0.080 10 79557264 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs121917738
rs121917738
SFTPA2
5 0.827 0.080 10 79557363 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs12569923
rs12569923
IL2RA
3 0.882 0.080 10 6042690 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12674822
rs12674822
ANGPT2 ; MCPH1
4 0.851 0.200 8 6531695 intron variant T/G snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs12722498
rs12722498
IL2RA
3 0.882 0.080 10 6053873 intron variant A/G snv 4.3E-02 0.010 1.000 1 2019 2019