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: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs863225401
rs863225401
MSH6 ; FBXO11
4 0.925 0.040 2 47799866 stop gained G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs879254044
rs879254044
MSH2
3 0.925 0.040 2 47475148 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs634537
rs634537
CDKN2B-AS1
6 0.851 0.080 9 22032153 intron variant T/G snv 0.28 0.700 1.000 2 2017 2018
dbSNP: rs723527
rs723527
EGFR
4 0.882 0.040 7 55067179 intron variant A/G snv 0.53 0.700 1.000 2 2017 2018
dbSNP: rs1029044314
rs1029044314
DDR1
4 0.851 0.040 6 30898095 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs10852606
rs10852606
HEATR3
4 0.882 0.040 16 50094961 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11233250
rs11233250
MIR4300HG
4 0.882 0.040 11 82685972 intron variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs11548193
rs11548193
BCAT2
2 0.925 0.040 19 48799813 missense variant G/A;C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs12752552
rs12752552
RAVER2
4 0.882 0.040 1 64763616 intron variant T/C snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs1306185959
rs1306185959
FGFR1
4 0.851 0.040 8 38429805 missense variant T/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1340827343
rs1340827343
POU5F1 ; TCF19
4 0.851 0.040 6 31165259 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1373481065
rs1373481065
GADD45A
6 0.827 0.040 1 67687668 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1381537616
rs1381537616
HOXA9 ; HOXA10 ; HOXA10-HOXA9
4 0.851 0.040 7 27174132 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1453633223
rs1453633223
CDKN2A
6 0.807 0.080 9 21974503 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2017 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs2235573
rs2235573
SLC16A8
4 0.882 0.040 22 38081923 synonymous variant G/A snv 0.47 0.46 0.700 1.000 1 2017 2017
dbSNP: rs2562152
rs2562152
RHBDF1
4 0.882 0.040 16 73898 intron variant A/T snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs374524467
rs374524467
PITX2
5 0.827 0.040 4 110632961 missense variant A/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3856806
rs3856806
PPARG
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2017 2017
dbSNP: rs572480837
rs572480837
POU5F1 ; TCF19
4 0.851 0.040 6 31165582 missense variant T/A snv 5.0E-04 8.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs6971
rs6971
TSPO
11 0.742 0.200 22 43162920 missense variant A/G snv 0.76 0.75 0.010 1.000 1 2017 2017
dbSNP: rs753152604
rs753152604
CDK4
7 0.827 0.040 12 57751680 missense variant C/A snv 0.010 1.000 1 2017 2017