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: rs4767364
rs4767364
NAA25
8 0.807 0.160 12 112083644 intron variant G/A snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs2074356
rs2074356
HECTD4
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.800 1.000 2 2010 2011
dbSNP: rs11066280
rs11066280
HECTD4
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.800 1.000 2 2010 2011
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 1999 1999
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.010 1.000 1 1999 1999
dbSNP: rs315919
rs315919
IL1RN
5 0.851 0.120 2 113118636 intron variant T/G snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs3181052
rs3181052
IL1RN
5 0.851 0.120 2 113128472 intron variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs452204
rs452204
IL1RN
7 0.807 0.200 2 113131484 intron variant G/A snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs6894687
rs6894687
MCC
1 5 113407256 intron variant G/C snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs11843987
rs11843987
TFDP1
1 13 113589954 intron variant A/G snv 9.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs2409764
rs2409764
FAM167A ; FAM167A-AS1
1 8 11423764 3 prime UTR variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs9841504
rs9841504
ZBTB20
7 0.827 0.120 3 114643917 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2013 2013
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 11 2005 2014
dbSNP: rs12413624
rs12413624 		5 0.851 0.120 10 118519432 intergenic variant T/A snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs9868873
rs9868873
SEMA5B
2 1.000 0.080 3 123012063 intron variant G/A snv 0.28 0.700 1.000 1 2011 2011
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: rs1039808
rs1039808
FAT4
3 0.925 0.080 4 125318831 missense variant C/G;T snv 4.0E-06; 0.41 0.010 1.000 1 2013 2013
dbSNP: rs12508222
rs12508222
FAT4
3 0.925 0.080 4 125449492 missense variant G/A;T snv 4.3E-02; 2.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs1567047
rs1567047
FAT4
3 0.925 0.080 4 125451587 missense variant G/A snv 0.27 0.22 0.010 1.000 1 2013 2013
dbSNP: rs753225272
rs753225272
FAT4
3 0.925 0.080 4 125491730 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1014867
rs1014867
FAT4
3 0.925 0.080 4 125491736 missense variant C/T snv 4.9E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs16901549
rs16901549
PCAT1 ; LOC105375751
1 8 126583939 intron variant G/T snv 8.6E-03 0.700 1.000 1 2012 2012