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: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.020 1.000 2 2009 2016
dbSNP: rs12770228
rs12770228
MIR1915HG
4 0.882 0.080 10 21494705 non coding transcript exon variant G/A snv 0.24 0.020 1.000 2 2015 2017
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2017 2017
dbSNP: rs4968451
rs4968451
BRIP1
13 0.732 0.160 17 61849946 intron variant A/C snv 0.15 0.020 1.000 2 2008 2018
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.030 1.000 3 2013 2017