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: rs4148500
rs4148500
ABCC4
1 1.000 0.040 13 95166034 intron variant G/A snv 1.9E-02 0.010 1.000 1 2017 2017
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: 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: rs2054576
rs2054576
ABCG2
4 0.882 0.160 4 88107623 intron variant A/G snv 7.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs72552713
rs72552713
ABCG2
2 0.925 0.040 4 88131805 stop gained G/A snv 4.0E-04 1.2E-04 0.010 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: 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: 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: rs200548390
rs200548390
BAZ1B
1 1.000 0.040 7 73478187 missense variant T/C snv 3.3E-04 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs727502862
rs727502862
GPATCH8
1 1.000 0.040 17 44399142 missense variant C/G;T snv 0.010 1.000 1 2011 2011
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: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
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: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012