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: rs10518133
rs10518133
PARM1
1 4 75025495 intron variant G/A snv 9.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs1063348
rs1063348
HLA-DQB1 ; HLA-DQB1-AS1
2 1.000 0.080 6 32660146 3 prime UTR variant A/G snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs121912491
rs121912491
LAMB2
4 0.882 0.240 3 49131128 missense variant C/T snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs16946160
rs16946160
GPC5
1 13 91551559 intron variant G/A snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs201899638
rs201899638
PTPRD
1 9 9932324 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2222722
rs2222722
LINC00472 ; MIR30A
2 1.000 0.080 6 71404009 intron variant G/A snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs2637678
rs2637678 		1 6 116466215 upstream gene variant T/C snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs2746419
rs2746419
AHI1
1 6 135332717 intron variant A/C snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs28366266
rs28366266
HLA-DRB1
1 6 32591976 upstream gene variant T/C snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs2858317
rs2858317 		1 6 32694503 intergenic variant C/A snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs2858829
rs2858829 		2 1.000 0.040 6 116447754 intron variant A/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs3124591
rs3124591
NOTCH1
6 0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs3124599
rs3124599
NOTCH1
5 0.851 0.080 9 136509318 intron variant G/A snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs33388
rs33388
NR3C1
12 0.776 0.360 5 143317730 intron variant A/T snv 0.53 0.010 1.000 1 2008 2008
dbSNP: rs33389
rs33389
NR3C1
4 0.882 0.280 5 143320934 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs397514479
rs397514479
ENTPD5 ; COQ6
2 1.000 14 73961339 missense variant C/A snv 0.010 1.000 1 2020 2020
dbSNP: rs4431401
rs4431401
NT5E
1 6 85479802 intron variant T/C snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs4642516
rs4642516 		1 6 32689766 TF binding site variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs487575
rs487575
LOC105374264
1 3 187880609 intergenic variant C/T snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs59882675
rs59882675
BTC
1 4 74763902 intron variant A/G snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs6020178
rs6020178
SNAI1
1 20 49987403 intron variant T/C snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs9273542
rs9273542
HLA-DQB1 ; HLA-DQB1-AS1
1 6 32661035 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs9348883
rs9348883
HCG23 ; TSBP1-AS1
1 6 32390772 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs9444348
rs9444348
NT5E
2 6 85465856 intron variant G/A snv 0.43 0.010 1.000 1 2018 2018