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: 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 2000 2000
dbSNP: rs161740
rs161740
CHD1
3 0.882 0.200 5 98869326 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2000813
rs2000813
LIPG
9 0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23 0.010 1.000 1 2014 2014
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2017 2017
dbSNP: rs3025021
rs3025021
VEGFA
4 0.882 0.160 6 43781426 non coding transcript exon variant T/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs3025035
rs3025035
VEGFA
4 0.851 0.240 6 43783622 non coding transcript exon variant C/T snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs369867819
rs369867819
LRRC32 ; LOC107984360
5 0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019