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: rs1131690799
rs1131690799
SERAC1
2 1.000 6 158117726 splice donor variant C/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1554174425
rs1554174425
RHAG
6 0.925 0.160 6 49618113 missense variant A/C snv 0.700 0
dbSNP: rs1554785242
rs1554785242
ADAMTS13
8 0.882 0.160 9 133426240 missense variant G/T snv 0.700 0
dbSNP: rs1554791280
rs1554791280
ADAMTS13
8 0.882 0.160 9 133442718 missense variant T/C snv 0.700 0
dbSNP: rs1555366607
rs1555366607
SPTB
5 1.000 0.080 14 64767787 missense variant A/G snv 0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs749523755
rs749523755
CPLANE1
4 0.882 0.080 5 37157810 stop gained A/T snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs775263897
rs775263897
CPLANE1
4 0.882 0.080 5 37148217 frameshift variant T/-;TT delins 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs777686211
rs777686211
CPLANE1
5 0.851 0.200 5 37226776 frameshift variant A/-;AA delins 1.8E-04 0.700 0
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.020 1.000 2 2012 2019
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.020 1.000 2 2010 2019
dbSNP: rs13720
rs13720
CTSZ ; NELFCD
2 20 58995513 3 prime UTR variant G/A snv 0.83 0.010 1.000 1 2018 2018
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2011 2011
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 < 0.001 1 2005 2005
dbSNP: rs683369
rs683369
SLC22A1
7 0.807 0.360 6 160130172 missense variant G/A;C;T snv 4.0E-06; 0.83; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs745436352
rs745436352
DGUOK
1 2 73946857 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019