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: rs373356672
rs373356672
NEIL1 ; MIR631
2 0.925 0.080 15 75354442 missense variant C/T snv 2.0E-05 7.0E-06 0.010 1.000 1 2015 2015
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: rs727504229
rs727504229
COL8A2
2 0.925 0.080 1 36098317 missense variant TG/AC mnv 0.010 1.000 1 2009 2009
dbSNP: rs779148597
rs779148597
ZEB1
3 0.882 0.080 10 31521255 missense variant G/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs80358192
rs80358192
COL8A2
6 0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs8177178
rs8177178
TF ; INHCAP
3 0.925 0.080 3 133744428 intron variant G/A snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs8177179
rs8177179
TF ; INHCAP
4 0.925 0.080 3 133744613 intron variant G/A snv 0.58 0.010 1.000 1 2013 2013