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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 1.000 6 2005 2016
dbSNP: rs11206019
rs11206019
ZYG11B
1 1 52794278 intron variant G/T snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs1180341
rs1180341
BMP8A ; PPIEL
1 1 39527136 3 prime UTR variant T/C snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs1194897557
rs1194897557
MTHFR
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs12740374
rs12740374
CELSR2
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs2296172
rs2296172
MACF1
4 1.000 0.080 1 39370145 missense variant A/G;T snv 0.19; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs235243
rs235243
VPS13D
1 1 12259937 intron variant G/T snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs4660214
rs4660214
MACF1
1 1 39265878 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs4950928
rs4950928
CHI3L1
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.010 1.000 1 2018 2018
dbSNP: rs6668352
rs6668352 		2 1 11854772 downstream gene variant G/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs6698723
rs6698723
PKN2-AS1
1 1 88400462 intron variant A/G snv 0.95 0.700 1.000 1 2016 2016
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs7528419
rs7528419
CELSR2
13 0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs755249
rs755249
BMP8A ; PPIEL
5 1 39529402 3 prime UTR variant C/A;T snv 0.710 1.000 1 2016 2016
dbSNP: rs13389599
rs13389599
LRRTM4
1 2 76861472 intron variant T/C snv 2.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs16837982
rs16837982 		1 2 154682843 intergenic variant G/T snv 5.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs17019537
rs17019537
VIT
1 2 36708365 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs634138
rs634138 		1 2 160876023 upstream gene variant C/T snv 2.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs767830104
rs767830104
CXCR4
13 0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs950880
rs950880
IL18R1 ; IL1RL1
3 1.000 0.040 2 102316102 intron variant C/A snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs10428206
rs10428206
CNTN3
1 3 74485377 intron variant T/C snv 1.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs1501299
rs1501299
ADIPOQ ; ADIPOQ-AS1
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2013 2013