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: rs1057517661
rs1057517661
GAL ; LOC107984343
2 0.925 0.040 11 68685628 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4570625
rs4570625
TPH2
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs17110747
rs17110747
TPH2
4 0.882 0.120 12 72032174 3 prime UTR variant G/A snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs2302515
rs2302515
APOBEC1
1 1.000 0.040 12 7652640 missense variant C/G snv 0.78 0.76 0.010 1.000 1 2017 2017
dbSNP: rs1867283
rs1867283
NTRK2
5 0.925 0.080 9 84835851 intron variant G/A snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs10868235
rs10868235
NTRK2
6 0.925 0.040 9 84878840 intron variant C/T snv 0.40 0.020 1.000 2 2017 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs944688
rs944688
GABBR2
1 1.000 0.040 9 98601678 intron variant C/T snv 0.35 0.010 1.000 1 2008 2008