Source: BEFREE ×
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: rs121918552
rs121918552
CYCS
2 1.000 0.040 7 25123996 missense variant C/T snv 0.710 1.000 1 2014 2019
dbSNP: rs724159947
rs724159947
ETV6
4 0.851 0.120 12 11869601 missense variant C/T snv 0.710 1.000 1 2015 2015
dbSNP: rs786205155
rs786205155
ETV6
4 0.882 0.120 12 11884481 missense variant T/C snv 0.710 1.000 1 2015 2015
dbSNP: rs879255268
rs879255268
SRC
1 0.925 0.040 20 37403347 missense variant G/A snv 0.710 1.000 1 2019 2019
dbSNP: rs1695
rs1695
GSTP1
187 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2018 2019
dbSNP: rs61749397
rs61749397
VWF
8 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.030 1.000 3 2010 2017
dbSNP: rs104894815
rs104894815
GATA1
6 0.776 0.120 X 48792337 missense variant G/A snv 0.020 1.000 2 2000 2012
dbSNP: rs10510050
rs10510050 		1 10 118867050 intron variant A/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs10759637
rs10759637
SLC31A1 ; CDC26
2 1.000 0.040 9 113262744 3 prime UTR variant A/C snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs11598702
rs11598702
NT5C2
1 10 103138228 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs11789898
rs11789898
BRD3
1 9 134060541 intron variant G/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs121908065
rs121908065
CHRNE ; GP1BA
2 0.851 0.080 17 4933119 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1297235855
rs1297235855
GP9
1 3 129062206 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs143873938
rs143873938
FLNA
4 0.882 0.120 X 154365245 missense variant C/A;G;T snv 3.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs1453542
rs1453542
OR4D6
3 0.925 0.040 11 59457412 missense variant G/A;C snv 7.2E-05; 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1523127
rs1523127
NR1I2
3 0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1523130
rs1523130
NR1I2
1 3 119780660 5 prime UTR variant T/C snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs1537514
rs1537514
MTHFR ; C1orf167
4 0.882 0.120 1 11788011 missense variant G/C snv 0.10 0.10 0.010 1.000 1 2014 2014
dbSNP: rs160441
rs160441 		2 1.000 0.040 8 89644760 intron variant T/C snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs17824620
rs17824620
RPH3A
1 12 112663189 intron variant C/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1800812
rs1800812
PDGFRA
2 1.000 0.080 4 54228462 intron variant G/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1800890
rs1800890
IL19
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs1801131
rs1801131
MTHFR
92 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
MTHFR
169 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2014 2014