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: rs7141987
rs7141987
MEG8 ; MIR323A ; MIR329-1 ; MIR329-2 ; MIR758 ; MIR1197
2 0.925 0.080 14 101025887 intron variant T/C snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs17749155
rs17749155
MSRA
2 0.925 0.080 8 10210563 intron variant G/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs696217
rs696217
GHRL ; GHRLOS
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs3127075
rs3127075
CASP7
1 1.000 0.080 10 113712354 intron variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1247942
rs1247942 		2 0.925 0.080 12 114235918 downstream gene variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10108511
rs10108511
LINC00208
2 0.925 0.080 8 11578007 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs2188554
rs2188554
CFTR ; ASZ1
1 1.000 0.080 7 117400063 intron variant A/G snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs17451754
rs17451754
CFTR
2 0.925 0.080 7 117616658 intron variant G/A snv 0.10 0.710 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
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 2012 2012
dbSNP: rs4740363
rs4740363
ABL1
1 1.000 0.080 9 130753797 intron variant A/G snv 7.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs17002540
rs17002540 		1 1.000 0.080 X 140863896 intergenic variant C/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.010 1.000 1 2014 2014
dbSNP: rs17708574
rs17708574
PDGFRB
1 1.000 0.080 5 150141675 intron variant G/A snv 8.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs2341926
rs2341926 		2 0.925 0.080 2 150927414 intergenic variant A/G snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs12465911
rs12465911 		2 0.925 0.080 2 150929228 intergenic variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs13396805
rs13396805 		2 0.925 0.080 2 150964998 intergenic variant C/T snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2011 2011
dbSNP: rs4661636
rs4661636
CASP9
2 0.925 0.160 1 15496566 intron variant C/T snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs7632500
rs7632500
LOC107986152
5 0.925 0.080 3 168007561 downstream gene variant A/G snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs9823696
rs9823696 		2 0.925 0.080 3 184065565 downstream gene variant A/G;T snv 0.710 1.000 1 2016 2016
dbSNP: rs10419226
rs10419226
CRTC1
5 0.925 0.080 19 18692362 intron variant T/G snv 0.67 0.800 1.000 1 2013 2013
dbSNP: rs199620551
rs199620551
CRTC1
2 0.925 0.080 19 18693485 intron variant G/- del 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs1035142
rs1035142
FLACC1
7 0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs7255
rs7255
GDF7
3 0.925 0.080 2 20679060 3 prime UTR variant T/A;C snv 0.700 1.000 1 2016 2016