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: rs6048
rs6048
F9
2 1.000 0.040 X 139551121 missense variant A/G snv 0.22 0.23 0.700 1.000 2 2019 2019
dbSNP: rs114209171
rs114209171
FUNDC2
5 0.882 0.120 X 155050522 non coding transcript exon variant T/C snv 0.23 0.710 1.000 1 2016 2016
dbSNP: rs143478537
rs143478537
VBP1
1 X 155195893 upstream gene variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs147751295
rs147751295
TMLHE ; TMLHE-AS1
1 X 155595482 intron variant G/A snv 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs17328181
rs17328181
FUNDC2
1 X 155051368 non coding transcript exon variant C/G snv 9.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs1800291
rs1800291
F8
1 X 154930010 missense variant G/A;C;T snv 1.5E-04; 0.18; 5.5E-06 0.700 1.000 1 2019 2019
dbSNP: rs28802027
rs28802027 		1 X 155390840 intergenic variant G/T snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs3002416
rs3002416 		2 X 39850941 upstream gene variant C/T snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs3002417
rs3002417 		1 X 39849470 upstream gene variant T/C snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs7051718
rs7051718
MTCP1 ; BRCC3
1 X 155104381 intron variant T/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs5758896
rs5758896
A4GALT
3 22 42719570 intron variant T/C snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.050 0.600 5 2003 2017
dbSNP: rs147377392
rs147377392
THBD
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.030 0.667 3 2003 2013
dbSNP: rs867186
rs867186
PROCR ; MMP24-AS1-EDEM2
15 0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 0.710 1.000 2 2010 2019
dbSNP: rs1042580
rs1042580
THBD
2 20 23046984 3 prime UTR variant T/C snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs10747514
rs10747514
PROCR ; MMP24-AS1-EDEM2
1 20 35187566 intron variant G/A snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs117390891
rs117390891
LOC100505664
1 20 23187889 intron variant G/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs13044899
rs13044899
NCOA6
2 20 34699274 intron variant G/A snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs1800576
rs1800576
THBD
4 0.925 0.080 20 23049378 missense variant C/T snv 2.0E-03 2.5E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs1962
rs1962
THBD
1 20 23045859 3 prime UTR variant C/T snv 0.75 0.010 1.000 1 2017 2017
dbSNP: rs1998081
rs1998081
CD93
1 20 23076845 upstream gene variant T/C snv 0.90 0.710 1.000 1 2016 2016
dbSNP: rs2144940
rs2144940 		1 20 23070169 downstream gene variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2425051
rs2425051
FAM83C
1 20 35292560 upstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2567617
rs2567617 		1 20 23068910 downstream gene variant G/A snv 0.88 0.010 1.000 1 2016 2016
dbSNP: rs3176123
rs3176123
THBD
3 1.000 0.040 20 23046776 3 prime UTR variant T/G snv 0.15 0.010 1.000 1 2017 2017