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: rs1999594
rs1999594 		2 1 11899159 regulatory region variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs234714
rs234714
CBS
1 21 43067923 non coding transcript exon variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs4948102
rs4948102
PSPH
1 7 56029572 intron variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs4962153
rs4962153
ADAMTS13 ; CACFD1
9 0.925 0.120 9 133458632 intron variant A/G snv 0.79 0.700 1.000 1 2017 2017
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs6940729
rs6940729
CD2AP
1 6 47585184 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs730123
rs730123
MFN2
1 1 12010235 intron variant G/A snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs9296404
rs9296404
CNPY3-GNMT
1 6 42958065 upstream gene variant T/C snv 0.57 0.700 1.000 1 2014 2014