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: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 1999 2018
dbSNP: rs569954362
rs569954362
SLC19A1
4 0.851 0.160 21 45530871 synonymous variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs57725551
rs57725551
SLC19A1 ; LOC107987304
3 0.882 0.120 21 45525868 synonymous variant G/T snv 5.3E-03 7.0E-03 0.010 1.000 1 2001 2001
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.903 31 2002 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.931 29 2002 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.040 1.000 4 2002 2012
dbSNP: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.030 1.000 3 2002 2012
dbSNP: rs201765376
rs201765376
MTR
12 0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05 0.020 1.000 2 2002 2012
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.500 4 2003 2015
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 1.000 2 2004 2014
dbSNP: rs140422742
rs140422742
CYP3A4
3 0.882 0.120 7 99778046 missense variant T/C;G snv 7.6E-05 6.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs368005287
rs368005287
CYP3A4
3 0.882 0.120 7 99762071 stop gained C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs72481843
rs72481843
NR3C1
3 0.882 0.120 5 143300685 splice donor variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2005 2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2005 2013
dbSNP: rs104893636
rs104893636
HOXD3 ; HOXD4
3 0.882 0.120 2 176151875 missense variant A/C;T snv 5.2E-06; 7.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs111033563
rs111033563
HFE ; LOC108783645
8 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs35201683
rs35201683
HFE
12 0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 0.010 1.000 1 2005 2005
dbSNP: rs780246573
rs780246573
HFE ; LOC108783645
12 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs797045145
rs797045145
HFE ; LOC108783645
6 0.807 0.240 6 26091479 stop gained G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs80338880
rs80338880
TFR2
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1169704167
rs1169704167
ATM
3 0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1296957097
rs1296957097
CHEK2
3 0.882 0.120 22 28719401 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1482545954
rs1482545954
NLRP2
3 0.882 0.120 19 54982407 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs200928781
rs200928781
CHEK2
11 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.010 1.000 1 2006 2006