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: rs1045411
rs1045411
HMGB1
18 0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs1057519865
rs1057519865
FOXL2 ; FOXL2NB
15 0.742 0.240 3 138946321 missense variant G/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2014 2014
dbSNP: rs3950627
rs3950627 		1 1.000 0.120 16 86402737 intergenic variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2014 2014