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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2011 2019
dbSNP: rs779957223
rs779957223
NLRP12
2 1.000 0.040 19 53804069 frameshift variant -/AG ins 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 1.000 3 2011 2019
dbSNP: rs1234442507
rs1234442507
TUBB1
3 1.000 0.040 20 59022915 frameshift variant AG/- del 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs145067756
rs145067756
UBE2Z
1 17 48923631 intron variant -/AAACAATGTCACAG;AAAGAATGTCACAG;AAAGAATGTCGCAG;AATGTCACAG;AGAGAATGTCACAG delins 0.40 0.700 1.000 1 2011 2011
dbSNP: rs148158062
rs148158062
LINC00624
1 1 147468451 intron variant -/GTTCCTTC delins 0.700 1.000 1 2011 2011
dbSNP: rs34234989
rs34234989
PROCR ; MMP24-AS1-EDEM2
5 0.882 0.120 20 35186731 intron variant A/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs398098426
rs398098426
ANKS1B
1 12 99246167 intron variant TT/-;T;TTT delins 0.20 0.010 1.000 1 2017 2017
dbSNP: rs56352300
rs56352300
LINC00624
1 1 147468451 intron variant -/GTTCCTTC delins 0.42 0.700 1.000 1 2011 2011
dbSNP: rs63750953
rs63750953
HBB
10 0.790 0.400 11 5227097 5 prime UTR variant TT/- delins 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs765798193
rs765798193
PSMD9
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.010 1.000 1 2011 2011
dbSNP: rs1554810066
rs1554810066
ENG ; LOC105379841
4 0.925 0.160 9 127824414 frameshift variant ATCGGTGCGG/- delins 0.700 0
dbSNP: rs1555517253
rs1555517253
ABCC6
4 0.925 0.200 16 16198019 splice acceptor variant CCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCTGGACAGAGCCAGGACCTG/- delins 0.700 0
dbSNP: rs72664204
rs72664204
ABCC6
9 0.925 0.200 16 16203407 splice donor variant AC/- delins 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.914 58 1998 2018
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.789 19 2008 2019
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.789 19 2008 2019
dbSNP: rs11833579
rs11833579 		6 0.827 0.200 12 666033 upstream gene variant G/A snv 0.25 0.100 0.727 11 2010 2019
dbSNP: rs12425791
rs12425791 		4 0.882 0.120 12 674318 downstream gene variant G/A;C snv 0.890 0.900 10 2009 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.780 0.875 8 2007 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2006 2018
dbSNP: rs2107595
rs2107595 		15 0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19 0.850 1.000 7 2012 2019
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.810 1.000 6 2001 2016
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.060 0.833 6 2005 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.060 1.000 6 1995 2019