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: rs947141826
rs947141826
MTG1
2 0.925 0.040 10 133394281 missense variant C/T snv 2.1E-05 0.010 1.000 1 1993 1993
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2001 2001
dbSNP: rs1258094111
rs1258094111
CTSG
2 0.925 0.040 14 24575388 missense variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs765669662
rs765669662
CA2 ; CA3-AS1
2 0.925 0.040 8 85465317 missense variant G/A;T snv 2.0E-05; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs387906553
rs387906553
ELANE
6 0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2002 2002
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2003 2003
dbSNP: rs762613037
rs762613037
SLC19A1 ; COL18A1
7 0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06 0.010 1.000 1 2003 2003
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 2002 2006
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2006 2006
dbSNP: rs35602083
rs35602083
FLT3
4 0.851 0.040 13 28049450 missense variant C/T snv 1.7E-02 1.6E-02 0.010 1.000 1 2006 2006
dbSNP: rs387906659
rs387906659
AKT2
14 0.742 0.280 19 40257052 stop gained C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2006 2008
dbSNP: rs10508293
rs10508293
AKR1C3
1 1.000 0.040 10 5098945 intron variant A/G snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs121913488
rs121913488
FLT3
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs749140677
rs749140677
VDR
13 0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.020 1.000 2 2007 2010
dbSNP: rs17433222
rs17433222
C1QB
1 1.000 0.040 1 22652153 upstream gene variant G/A snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2010 2010
dbSNP: rs2075685
rs2075685
XRCC4 ; TMEM167A
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2075686
rs2075686
XRCC4 ; TMEM167A
13 0.742 0.240 5 83076927 intron variant C/T snv 1.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs2077647
rs2077647
ESR1
16 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 0.010 1.000 1 2010 2010
dbSNP: rs2228480
rs2228480
ESR1
16 0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18 0.010 1.000 1 2010 2010
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2010 2010