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 1999 1999
dbSNP: rs3771863
rs3771863
TACR1 ; LOC105374811
2 0.925 0.240 2 75192588 intron variant C/T snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs530390117
rs530390117
FASLG
3 0.882 0.240 1 172659460 missense variant T/C snv 3.0E-04 2.1E-05 0.010 1.000 1 2007 2007