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: rs545854
rs545854 		4 0.882 0.160 8 10002570 intron variant G/C snv 0.85 0.010 1.000 1 2019 2019
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs6903956
rs6903956
ADTRP
10 0.763 0.160 6 11774350 intron variant A/G snv 0.65 0.010 1.000 1 2015 2015
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: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs1653624
rs1653624
P2RX7 ; LOC105370032
2 0.925 0.120 12 121184717 missense variant T/A snv 1.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs4684846
rs4684846
PPARG
3 0.882 0.080 3 12297350 intron variant A/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs1822825
rs1822825
PPARG
2 0.925 0.080 3 12408464 intron variant G/A snv 0.61 0.010 1.000 1 2013 2013
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: 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: 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
dbSNP: rs2544390
rs2544390
LRP2
4 0.925 0.080 2 169348336 intron variant C/T snv 0.45 0.010 1.000 1 2013 2013
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: 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: rs1025993235
rs1025993235
PRPSAP2
1 1.000 0.040 17 18865880 missense variant C/T snv 0.010 1.000 1 2011 2011
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: rs28934583
rs28934583
UMOD
2 0.925 0.240 16 20348652 missense variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs143709408
rs143709408
KCNQ1
5 0.882 0.200 11 2527999 missense variant C/T snv 1.6E-04 3.6E-04 0.700 1.000 1 2018 2018
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 2017 2017
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: 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: rs201178535
rs201178535
SIPA1L3
2 1.000 0.040 19 38101163 missense variant C/T snv 4.5E-05 5.6E-05 0.700 1.000 1 2018 2018
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
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