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: rs1050757
rs1050757
G6PD
2 0.925 0.160 X 154531643 3 prime UTR variant C/T snv 0.63 0.010 1.000 1 2017 2017
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: 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: 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: rs2071429
rs2071429
G6PD
2 0.925 0.160 X 154532293 intron variant G/A snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs2230037
rs2230037
G6PD
2 0.925 0.160 X 154532439 synonymous variant A/G snv 0.010 1.000 1 2017 2017
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: rs5030872
rs5030872
G6PD
3 0.882 0.160 X 154534440 missense variant T/A snv 1.4E-04 4.7E-04 0.010 1.000 1 1996 1996
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: 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: rs865862446
rs865862446
FANCD2
5 0.882 0.200 3 10049416 missense variant G/A snv 0.010 1.000 1 2002 2002