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: rs174538
rs174538
TMEM258 ; FEN1 ; MIR611
21 0.701 0.440 11 61792609 5 prime UTR variant G/A snv 0.34 0.26 0.010 < 0.001 1 2018 2018
dbSNP: rs185919705
rs185919705
AGBL1
2 0.925 0.080 15 86674435 stop gained C/T snv 1.8E-03; 4.1E-06 2.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs3135967
rs3135967
LIG3
4 0.851 0.160 17 34986710 intron variant A/G snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs4246215
rs4246215
FEN1 ; FADS2
29 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs613872
rs613872
TCF4
6 0.851 0.120 18 55543071 intron variant G/T snv 0.88 0.800 1.000 15 2010 2019
dbSNP: rs1348047
rs1348047
TCF4
1 1.000 0.080 18 55382827 intron variant G/T snv 0.26 0.020 1.000 2 2019 2019
dbSNP: rs1452787
rs1452787
TCF4
5 0.827 0.160 18 55539976 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019