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: rs1530440
rs1530440
CABCOCO1
6 1.000 0.040 10 61764833 intron variant C/T snv 0.15 0.700 1.000 2 2011 2011
dbSNP: rs17367504
rs17367504
MTHFR
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 2 2011 2011
dbSNP: rs11168245
rs11168245
HDAC7
2 1.000 0.040 12 47810716 intron variant C/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11771259
rs11771259
C1GALT1
3 1.000 0.040 7 7237584 intron variant C/G snv 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs12627514
rs12627514 		3 1.000 0.040 21 43339560 intergenic variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12759054
rs12759054
SLC35F3
3 1.000 0.040 1 233984064 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs13040716
rs13040716 		2 1.000 0.040 20 32182402 downstream gene variant A/G snv 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs13139571
rs13139571
GUCY1A1 ; LOC107984032
9 1.000 0.040 4 155724361 intron variant C/A snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs13306560
rs13306560
CLCN6 ; MTHFR
3 1.000 0.040 1 11806126 5 prime UTR variant C/T snv 3.7E-02 0.700 1.000 1 2010 2010
dbSNP: rs15285
rs15285
LPL
5 1.000 0.040 8 19967156 3 prime UTR variant C/T snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs1549306
rs1549306
CFDP1
2 1.000 0.040 16 75381443 intron variant T/C snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs1717027
rs1717027
ULK4
3 1.000 0.160 3 41946428 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs17477177
rs17477177 		4 1.000 0.080 7 106771412 upstream gene variant T/C snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs17608766
rs17608766
GOSR2 ; LRRC37A2
8 1.000 0.040 17 46935905 3 prime UTR variant T/C snv 9.2E-02 0.700 1.000 1 2011 2011
dbSNP: rs200528
rs200528
TNRC6A
2 1.000 0.040 16 24747810 intron variant A/G snv 0.82 0.700 1.000 1 2019 2019
dbSNP: rs229340
rs229340
HSF2BP
2 1.000 0.040 21 43535523 intron variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs2293947
rs2293947
EEFSEC
2 1.000 0.040 3 128378653 intron variant A/C snv 8.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs2869966
rs2869966
FAM13A ; LOC105377327
9 1.000 0.040 4 88947927 intron variant C/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs305221
rs305221
PKN2
2 1.000 0.040 1 88733302 intron variant G/A snv 0.59 0.700 1.000 1 2019 2019
dbSNP: rs36044436
rs36044436
GTF2I
2 1.000 0.040 7 74675495 intron variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3774372
rs3774372
ULK4
4 1.000 0.160 3 41835922 missense variant T/C snv 0.17 0.18 0.700 1.000 1 2011 2011
dbSNP: rs381815
rs381815
PLEKHA7
6 1.000 0.040 11 16880721 intron variant C/A;T snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs429150
rs429150
TNXB
6 1.000 6 32107786 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs4787486
rs4787486
TMEM219
2 1.000 0.040 16 29966241 intron variant A/T snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs55804009
rs55804009 		2 1.000 0.040 18 1848628 intron variant C/A snv 0.17 0.700 1.000 1 2019 2019