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: rs149775276
rs149775276
2 0.925 0.080 8 42732292 missense variant C/T snv 3.6E-04 4.9E-04 0.010 1.000 1 2014 2014
dbSNP: rs150954431
rs150954431
2 1.000 0.080 12 124517777 intron variant C/T snv 1.6E-02 0.800 1.000 1 2014 2014
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs2005290
rs2005290
2 1.000 0.080 17 3284718 intron variant C/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs5374
rs5374
1 1.000 0.080 18 77250689 synonymous variant T/C snv 0.57 0.57 0.010 1.000 1 2014 2014
dbSNP: rs779838446
rs779838446
2 0.925 0.080 8 42756217 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1437134
rs1437134
1 1.000 0.080 16 69696523 3 prime UTR variant A/G snv 0.66 0.010 1.000 1 2015 2015
dbSNP: rs2229163
rs2229163
1 1.000 0.080 11 46385307 synonymous variant G/A snv 1.0E-02 3.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs2629540
rs2629540
4 0.925 0.080 10 124737579 intron variant G/C snv 0.18 0.810 1.000 2 2014 2018
dbSNP: rs1868152
rs1868152
2 0.925 0.080 3 186502274 intergenic variant A/G;T snv 0.85 0.010 1.000 1 2018 2018
dbSNP: rs2952621
rs2952621
4 0.882 0.080 2 129240870 downstream gene variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs10052957
rs10052957
4 0.851 0.160 5 143407136 non coding transcript exon variant G/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2283265
rs2283265
12 0.776 0.160 11 113414814 intron variant C/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs41423247
rs41423247
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 1.000 1 2019 2019