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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2006 2010
dbSNP: rs1400106676
rs1400106676
SP1
1 1.000 0.120 12 53382573 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2007 2007
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 2001 2001
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2000 2000
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2001 2001
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.010 < 0.001 1 2001 2001
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010
dbSNP: rs45567233
rs45567233
CTSG
3 0.882 0.200 14 24574465 missense variant T/C snv 8.0E-02 5.9E-02 0.010 1.000 1 2001 2001
dbSNP: rs532019808
rs532019808
NOX4
8 0.827 0.120 11 89451807 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2013 2013
dbSNP: rs9943582
rs9943582
APLNR
8 0.807 0.120 11 57237593 upstream gene variant T/C snv 0.63 0.010 1.000 1 2007 2007