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: 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: rs534283978
rs534283978
PIEZO1
1 1.000 0.040 16 88722592 missense variant G/A snv 5.1E-04 5.7E-04 0.010 1.000 1 2019 2019
dbSNP: rs1555367318
rs1555367318
SPTB
1 1.000 0.040 14 64770879 splice donor variant ACCTGGGCCTC/- delins 0.700 0
dbSNP: rs33924146
rs33924146
HBB
1 1.000 0.040 11 5226765 missense variant A/C;G snv 0.700 0
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: rs863225469
rs863225469
RHAG
2 0.925 0.120 6 49619338 missense variant A/C snv 0.010 1.000 1 2012 2012
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: 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: rs572409834
rs572409834
ALDH9A1 ; LOC440700
4 0.925 0.120 1 165698515 missense variant C/T snv 4.2E-06 0.010 1.000 1 2002 2002
dbSNP: rs769013954
rs769013954
ALDH9A1
4 0.925 0.120 1 165682137 missense variant A/G snv 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs1564875331
rs1564875331
HBB
4 0.882 0.120 11 5226724 frameshift variant CATAA/TGATGCC delins 0.700 0
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: 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: 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: 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
dbSNP: rs865862446
rs865862446
FANCD2
5 0.882 0.200 3 10049416 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs267607201
rs267607201
KLF1
7 0.807 0.120 19 12885001 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs78478128
rs78478128
G6PD
7 0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04 0.010 1.000 1 2002 2002
dbSNP: rs1565538350
rs1565538350
TPI1
7 0.851 0.200 12 6870074 missense variant G/A 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: 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: 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: 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