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: rs2637678
rs2637678 		1 6 116466215 upstream gene variant T/C snv 0.36 0.700 1.000 1 2019 2019
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: rs4642516
rs4642516 		1 6 32689766 TF binding site variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2011 2013
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2011 2018
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2011 2013
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2004 2004
dbSNP: rs2746419
rs2746419
AHI1
1 6 135332717 intron variant A/C snv 0.46 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: rs1569504068
rs1569504068
COL4A5
2 1.000 X 108655388 frameshift variant G/- del 0.700 0
dbSNP: rs397514479
rs397514479
ENTPD5 ; COQ6
2 1.000 14 73961339 missense variant C/A snv 0.010 1.000 1 2020 2020
dbSNP: rs552953108
rs552953108
F2
16 0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 0.010 1.000 1 1998 1998
dbSNP: rs16946160
rs16946160
GPC5
1 13 91551559 intron variant G/A snv 0.13 0.700 1.000 1 2011 2011
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: 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: rs9273542
rs9273542
HLA-DQB1 ; HLA-DQB1-AS1
1 6 32661035 intron variant C/A;T snv 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: 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: 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: rs487575
rs487575
LOC105374264
1 3 187880609 intergenic variant C/T snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs28940578
rs28940578
MEFV
16 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.700 1.000 1 2005 2005
dbSNP: rs28940580
rs28940580
MEFV
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2003 2003
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