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: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2003 2003
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 2003 2003
dbSNP: rs1306274763
rs1306274763
HPSE2
1 1.000 10 98641932 missense variant A/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs144246695
rs144246695
HPSE
4 0.851 0.160 4 83310887 missense variant G/A snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs368750879
rs368750879
FLNA
1 1.000 X 154354390 missense variant C/T snv 3.3E-05 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs552953108
rs552953108
F2
16 0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 0.010 1.000 1 2003 2003
dbSNP: rs748636374
rs748636374
HPSE2
1 1.000 10 98482732 missense variant C/T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs765434485
rs765434485
HPSE
1 1.000 4 83295459 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs767720704
rs767720704
HPSE2
1 1.000 10 98459662 missense variant C/T snv 2.4E-05 2.1E-05 0.010 1.000 1 2003 2003