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: 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: rs1555367318
rs1555367318
SPTB
1 1.000 0.040 14 64770879 splice donor variant ACCTGGGCCTC/- delins 0.700 0
dbSNP: rs1564875331
rs1564875331
HBB
4 0.882 0.120 11 5226724 frameshift variant CATAA/TGATGCC delins 0.700 0
dbSNP: rs1565538350
rs1565538350
TPI1
7 0.851 0.200 12 6870074 missense variant G/A snv 0.700 0
dbSNP: rs33924146
rs33924146
HBB
1 1.000 0.040 11 5226765 missense variant A/C;G snv 0.700 0
dbSNP: rs367956522
rs367956522
ATP7B
7 0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05 0.700 0
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.040 0.750 4 2012 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 1.000 3 1998 2009
dbSNP: rs7270101
rs7270101
ITPA
10 0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02 0.030 1.000 3 2012 2013
dbSNP: rs1057520247
rs1057520247
BRCA2
5 0.882 0.200 13 32326591 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs121912748
rs121912748
SLC4A1
9 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs121912751
rs121912751
SLC4A1
4 0.882 0.200 17 44251241 missense variant G/T snv 7.2E-05 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 < 0.001 1 2017 2017
dbSNP: rs1314386070
rs1314386070
DECR1
9 0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs137853583
rs137853583
GPI
5 0.827 0.080 19 34394044 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2002 2002
dbSNP: rs200111236
rs200111236
G6PD
5 0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs2230294
rs2230294
GPI
4 0.851 0.080 19 34393927 missense variant G/A;T snv 2.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs267607201
rs267607201
KLF1
7 0.807 0.120 19 12885001 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs33917785
rs33917785
HBB
1 1.000 0.040 11 5226617 missense variant A/C;G snv 0.010 1.000 1 1993 1993
dbSNP: rs33926796
rs33926796
HBB
1 1.000 0.040 11 5226767 missense variant A/C;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs33966487
rs33966487
HBB
2 0.925 0.040 11 5226588 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs374019283
rs374019283
FANCD2
5 0.882 0.200 3 10039759 synonymous variant T/C snv 4.0E-05 2.2E-04 0.010 1.000 1 2002 2002