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: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs505802
rs505802
SLC22A12
4 0.882 0.160 11 64589600 upstream gene variant T/C snv 0.45 0.010 1.000 1 2013 2013
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: rs142226072
rs142226072
DPEP1
1 1.000 0.040 16 89637551 splice region variant C/T snv 2.2E-04 3.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs2941484
rs2941484
HNF4G
4 0.882 0.160 8 75566533 3 prime UTR variant C/T snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs199897813
rs199897813
ABCG2
2 1.000 0.040 4 88094576 splice donor variant C/A;T snv 5.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs11602903
rs11602903
SLC22A12
3 0.882 0.120 11 64590769 5 prime UTR variant A/T snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs559946
rs559946
SLC22A12
1 1.000 0.040 11 64591133 5 prime UTR variant T/C snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs3825016
rs3825016
SLC22A12
3 0.882 0.160 11 64591814 synonymous variant C/T snv 0.57 0.51 0.020 1.000 2 2015 2018
dbSNP: rs11231825
rs11231825
SLC22A12
5 0.827 0.240 11 64592802 synonymous variant T/C snv 0.57 0.51 0.010 1.000 1 2018 2018
dbSNP: rs1137070
rs1137070
MAOA
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2010 2010
dbSNP: rs12218
rs12218
SAA1
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.010 1.000 1 2012 2012
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 < 0.001 1 2006 2006
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: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.040 1.000 4 2007 2013
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: rs1025993235
rs1025993235
PRPSAP2
1 1.000 0.040 17 18865880 missense variant C/T snv 0.010 1.000 1 2011 2011
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: rs1230053514
rs1230053514
SLC22A12
1 1.000 0.040 11 64598551 missense variant C/T snv 0.010 1.000 1 2011 2011
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: 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: rs141158222
rs141158222
BCAS1
1 1.000 0.040 20 53953466 missense variant C/T snv 1.2E-04 1.9E-04 0.700 1.000 1 2018 2018
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: rs143231463
rs143231463
RREB1
3 1.000 0.040 6 7226577 missense variant A/G snv 1.8E-04 2.1E-04 0.700 1.000 1 2018 2018