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: rs11254375
rs11254375
CUBN
1 1.000 0.080 10 17117193 intron variant T/G snv 0.30 0.010 1.000 1 2020 2020
dbSNP: rs13207351
rs13207351
VEGFA
4 0.851 0.280 6 43770057 upstream gene variant A/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs1801224
rs1801224
CUBN
1 1.000 0.080 10 17105522 missense variant G/C;T snv 8.0E-06; 0.62 0.010 1.000 1 2020 2020
dbSNP: rs3093077
rs3093077 		9 0.827 0.200 1 159709846 upstream gene variant A/C;G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs4366393
rs4366393
CUBN
1 1.000 0.080 10 16975493 intron variant A/G snv 0.56 0.010 1.000 1 2020 2020
dbSNP: rs5742632
rs5742632
IGF1 ; LINC02456
4 0.851 0.120 12 102462696 intron variant A/G snv 0.26 0.010 1.000 1 2020 2020
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2020 2020
dbSNP: rs6602175
rs6602175
CUBN
1 1.000 0.080 10 17100527 intron variant G/T snv 0.61 0.010 1.000 1 2020 2020
dbSNP: rs7071576
rs7071576
CUBN
1 1.000 0.080 10 16957351 intron variant G/A snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs12910361
rs12910361
HMG20A
1 1.000 0.080 15 77489993 upstream gene variant A/G snv 0.63 0.700 1.000 2 2019 2019
dbSNP: rs2000999
rs2000999
HPR ; TXNL4B
7 1.000 0.080 16 72074194 intron variant G/A snv 0.16 0.020 0.500 2 2019 2019
dbSNP: rs56337234
rs56337234 		1 1.000 0.080 4 1782676 regulatory region variant C/T snv 0.43 0.700 1.000 2 2019 2019
dbSNP: rs58432198
rs58432198
FAF1
1 1.000 0.080 1 50790419 intron variant C/T snv 8.3E-02 0.700 1.000 2 2019 2019
dbSNP: rs10011838
rs10011838 		3 1.000 0.080 4 152599127 intergenic variant G/A snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs10184004
rs10184004 		5 1.000 0.080 2 164651879 downstream gene variant C/T snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs10228456
rs10228456 		3 1.000 0.080 7 15024301 intergenic variant C/T snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs10231021
rs10231021 		1 1.000 0.080 7 15020804 intergenic variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10260148
rs10260148
LOC105375508
2 1.000 0.080 7 130746210 intergenic variant C/T snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs10305420
rs10305420
GLP1R
2 0.925 0.160 6 39048860 missense variant C/T snv 0.31 0.27 0.010 1.000 1 2019 2019
dbSNP: rs10406327
rs10406327
PEPD
2 1.000 0.080 19 33399932 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10420309
rs10420309
EML2
1 1.000 0.080 19 45646924 upstream gene variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1047883
rs1047883
CPS1
1 1.000 0.080 2 210591913 missense variant A/G;T snv 0.57; 3.7E-03 0.010 1.000 1 2019 2019
dbSNP: rs10498210
rs10498210
IRS1
1 1.000 0.080 2 226755230 intron variant G/A snv 9.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs10555080
rs10555080
LINC02841
2 1.000 0.080 19 31552265 intron variant GACT/-;GACTGACT delins 0.31 0.700 1.000 1 2019 2019
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2019 2019