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: rs7929627
rs7929627
SLC22A12
1 1.000 0.040 11 64600264 intron variant A/G snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs893006
rs893006
SLC22A12
3 0.882 0.160 11 64598324 intron variant C/A snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs11554266
rs11554266
GNAS
4 1.000 0.040 20 58903791 splice region variant C/G;T snv 4.0E-06; 2.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2007 2012
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1209613132
rs1209613132
COL1A2
1 1.000 0.040 7 94404745 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs202007714
rs202007714
LRIG1 ; SLC25A26
4 1.000 0.040 3 66383098 missense variant G/A;C snv 1.4E-04; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs33972313
rs33972313
SLC23A1
8 0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs201874364
rs201874364
ETV5
4 1.000 0.040 3 186065822 missense variant C/A;T snv 4.0E-06; 7.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.800 1.000 10 2010 2019
dbSNP: rs186459505
rs186459505
SFMBT1
5 0.925 0.120 3 52907083 missense variant G/A;T snv 1.1E-04; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs3825017
rs3825017
SLC22A12
1 1.000 0.040 11 64591802 missense variant C/A;T snv 4.0E-06; 3.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs753397550
rs753397550
COL1A2
1 1.000 0.040 7 94426426 missense variant C/G;T snv 4.6E-06; 9.3E-06 0.010 1.000 1 2011 2011
dbSNP: rs141310123
rs141310123
NFATC1
4 0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06 0.700 1.000 1 2018 2018
dbSNP: rs147445322
rs147445322
KCNQ1 ; KCNQ1-AS1
4 0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06 0.700 1.000 1 2018 2018
dbSNP: rs1529909
rs1529909
SLC22A12
1 1.000 0.040 11 64598471 intron variant T/A;C snv 6.5E-06; 0.57 0.010 1.000 1 2015 2015
dbSNP: rs151305324
rs151305324
TMEM171
3 1.000 0.040 5 73123606 missense variant G/A snv 6.8E-05; 8.0E-06 9.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs61754122
rs61754122
BCAS1
3 1.000 0.040 20 54028628 missense variant C/A;T snv 1.1E-02; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs138551969
rs138551969
VEGFA
4 1.000 0.040 6 43780749 missense variant A/G snv 1.2E-05 3.5E-05 0.700 1.000 1 2018 2018
dbSNP: rs143583842
rs143583842
UMOD
2 1.000 0.040 16 20341262 missense variant G/A;T snv 7.4E-04; 1.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs189660050
rs189660050
ZPBP2
1 1.000 0.040 17 39870781 missense variant C/T snv 2.8E-05 1.9E-04 0.010 1.000 1 2011 2011
dbSNP: rs149454410
rs149454410
SLC2A9
5 0.925 0.120 4 9942000 missense variant C/G;T snv 4.0E-05; 3.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs200469773
rs200469773
LRP2
2 0.925 0.120 2 169237232 missense variant C/T snv 4.0E-05 4.2E-05 0.700 1.000 1 2018 2018