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: rs5569
rs5569
SLC6A2
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.080 1.000 8 2006 2013
dbSNP: rs80359636
rs80359636
BRCA2
7 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 0.700 1.000 6 2005 2013
dbSNP: rs28364997
rs28364997
SLC6A3
9 0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04 0.050 1.000 5 2005 2018
dbSNP: rs6296
rs6296
HTR1B ; LOC105377864
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.050 1.000 5 2003 2018
dbSNP: rs142441643
rs142441643
SDHA
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 4 2010 2017
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
dbSNP: rs3746544
rs3746544
SNAP25 ; SNAP25-AS1
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.040 1.000 4 2007 2018
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.030 1.000 3 2014 2018
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.030 1.000 3 2010 2018
dbSNP: rs2251214
rs2251214
SYT1
7 0.827 0.040 12 79430071 intron variant A/G;T snv 0.030 1.000 3 2017 2019
dbSNP: rs3785143
rs3785143
SLC6A2
2 1.000 0.040 16 55661194 intron variant C/T snv 8.6E-02 0.030 1.000 3 2008 2018
dbSNP: rs463379
rs463379
SLC6A3
3 0.882 0.080 5 1431049 intron variant G/C snv 0.31 0.030 1.000 3 2007 2014
dbSNP: rs56135409
rs56135409 		1 1.000 0.040 3 20683524 intron variant C/A snv 0.27 0.700 1.000 3 2018 2019
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.030 1.000 3 2000 2005
dbSNP: rs6551665
rs6551665
ADGRL3
4 0.882 0.040 4 61873823 intron variant G/A snv 0.59 0.030 1.000 3 2015 2019
dbSNP: rs11178997
rs11178997
TPH2
5 0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12 0.020 1.000 2 2005 2009
dbSNP: rs11191454
rs11191454
AS3MT ; BORCS7-ASMT ; LOC107984265
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.810 1.000 2 2013 2015
dbSNP: rs11568324
rs11568324
SLC6A2
1 1.000 0.040 16 55692146 intron variant C/T snv 5.3E-03 0.020 1.000 2 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2011 2012
dbSNP: rs1278352
rs1278352
ADAM12
1 1.000 0.040 10 126084807 intron variant A/G snv 0.61 0.700 1.000 2 2016 2016
dbSNP: rs12861247
rs12861247
STS
2 1.000 0.040 X 7256158 intron variant G/A snv 7.1E-02 0.020 1.000 2 2008 2011
dbSNP: rs1412005
rs1412005 		3 0.925 0.040 9 90646879 upstream gene variant T/A;G snv 0.020 1.000 2 2011 2016
dbSNP: rs145108385
rs145108385
LOC648987
2 0.925 0.040 5 43054645 intron variant A/G snv 0.700 1.000 2 2018 2019
dbSNP: rs1566652
rs1566652
SLC6A2
1 1.000 0.040 16 55697663 intron variant G/T snv 0.29 0.020 1.000 2 2015 2019