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: rs1569504068
rs1569504068
COL4A5
2 1.000 X 108655388 frameshift variant G/- del 0.700 0
dbSNP: rs199840952
rs199840952
ZAP70
7 0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs267606954
rs267606954
PLCE1
3 1.000 0.080 10 94032007 stop gained C/T snv 2.4E-05 0.700 0
dbSNP: rs869025224
rs869025224
ZAP70
7 0.827 0.240 2 97734709 missense variant G/C snv 7.0E-06 0.700 0
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: 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: 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: 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: 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: 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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 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: 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: rs139994842
rs139994842
NOTCH1
3 0.925 0.040 9 136508308 missense variant G/A;C snv 1.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs1437439236
rs1437439236
SGPL1
3 0.925 0.080 10 70871945 missense variant C/T snv 8.0E-06 0.010 1.000 1 2018 2018
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