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: rs6940729
rs6940729
CD2AP
1 6 47585184 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
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: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.800 1.000 4 2009 2018
dbSNP: rs164746
rs164746 		1 16 89642611 downstream gene variant G/A snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs17354370
rs17354370 		1 7 19560244 intron variant A/G snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs1999594
rs1999594 		2 1 11899159 regulatory region variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs730123
rs730123
MFN2
1 1 12010235 intron variant G/A snv 0.55 0.700 1.000 1 2018 2018