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: rs104894223
rs104894223
FZD4 ; PRSS23
2 0.925 0.080 11 86951990 missense variant T/C snv 5.1E-04 5.2E-04 0.700 0
dbSNP: rs61735303
rs61735303
FZD4 ; PRSS23
1 1.000 0.080 11 86952254 missense variant G/A snv 1.8E-02 1.4E-02 0.020 1.000 2 2009 2018
dbSNP: rs61735304
rs61735304
FZD4 ; FZD4-DT
3 0.882 0.080 11 86954989 missense variant G/A snv 1.7E-02 1.3E-02 0.020 1.000 2 2009 2018
dbSNP: rs1064795738
rs1064795738
TUBA1A
2 0.925 0.120 12 49185651 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2015 2015
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2016 2016
dbSNP: rs2049046
rs2049046
BDNF
6 0.827 0.200 11 27702228 intron variant T/A snv 0.48 0.010 < 0.001 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs61749246
rs61749246
FZD4 ; PRSS23
1 1.000 0.080 11 86951140 3 prime UTR variant C/A snv 2.1E-02 1.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs7934165
rs7934165
BDNF
2 0.925 0.160 11 27710436 intron variant G/A snv 0.49 0.010 < 0.001 1 2014 2014