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: rs1010273
rs1010273
PRDM1 ; ATG5
3 0.882 0.120 6 106107150 synonymous variant G/A snv 9.7E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs1046282
rs1046282
ERCC1 ; PPP1R13L ; CD3EAP
10 0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs10932029
rs10932029
ICOS ; LOC101927840
5 0.827 0.200 2 203937045 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs112120857
rs112120857
APOBEC3C ; APOBEC3F
1 1.000 0.080 22 39018377 missense variant G/C;T snv 5.2E-05; 5.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs11466004
rs11466004
LY96
1 1.000 0.080 8 74029040 missense variant C/G;T snv 1.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs11568695
rs11568695
ABCC4
1 1.000 0.080 13 95044286 synonymous variant C/T snv 1.2E-02 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs12252
rs12252
IFITM3
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2019 2019
dbSNP: rs12331678
rs12331678
HPSE
2 0.925 0.120 4 83303254 intron variant T/G snv 0.82 0.010 1.000 1 2019 2019
dbSNP: rs12503843
rs12503843
HPSE
2 0.925 0.120 4 83300266 intron variant A/G snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs1329044438
rs1329044438
DIO1
2 0.925 0.120 1 53906244 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1834306
rs1834306
MIR100HG ; MIR100 ; MIR10526
9 0.776 0.200 11 122152479 intron variant A/G snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs2185379
rs2185379
PRDM1 ; ATG5
1 1.000 0.080 6 106088378 missense variant G/A snv 3.8E-02 4.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs2227982
rs2227982
PDCD1 ; LOC105373977
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs2523454
rs2523454
MICA ; MICA-AS1
3 0.882 0.240 6 31400088 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs2708973
rs2708973 		1 1.000 0.080 2 112906296 intergenic variant A/G snv 0.96 0.010 1.000 1 2019 2019
dbSNP: rs2723175
rs2723175
IL37
2 1.000 0.080 2 112910176 upstream gene variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs2723176
rs2723176
IL37
4 0.851 0.200 2 112914932 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs28363292
rs28363292
RAD51D ; RAD51L3-RFFL
2 0.925 0.120 17 35100823 3 prime UTR variant T/A;C;G snv 5.5E-06; 3.3E-05; 1.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs3200401
rs3200401
MALAT1 ; MASCRNA ; TALAM1
11 0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17 0.010 1.000 1 2019 2019
dbSNP: rs3212948
rs3212948
ERCC1
10 0.776 0.160 19 45421104 intron variant G/C snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs4024
rs4024
AFP
7 0.827 0.120 4 73435667 intron variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs4985790
rs4985790 		2 0.925 0.120 17 21420842 downstream gene variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs510432
rs510432
ATG5
11 0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57 0.010 1.000 1 2019 2019