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: rs863223408
rs863223408
ACVRL1
4 0.882 0.160 12 51920832 missense variant G/A snv 0.700 1.000 6 2005 2015
dbSNP: rs28936401
rs28936401
ACVRL1
2 0.925 0.160 12 51916107 missense variant C/A;T snv 0.700 1.000 3 2003 2015
dbSNP: rs1057517944
rs1057517944
ACVRL1
3 0.882 0.160 12 51920816 stop gained C/T snv 4.0E-06 0.700 1.000 2 2004 2013
dbSNP: rs1060503248
rs1060503248
ACVRL1
2 0.925 0.160 12 51916108 missense variant G/A;C snv 4.0E-06 1.4E-05 0.700 1.000 2 2003 2013
dbSNP: rs1085307404
rs1085307404
ACVRL1
1 1.000 0.080 12 51912511 frameshift variant C/- del 0.700 1.000 2 2001 2010
dbSNP: rs1085307423
rs1085307423
ACVRL1
1 1.000 0.080 12 51920768 frameshift variant G/- delins 0.700 1.000 2 2010 2012
dbSNP: rs1085307429
rs1085307429
ACVRL1
1 1.000 0.080 12 51920849 stop gained C/T snv 0.700 1.000 2 2001 2010
dbSNP: rs1085307434
rs1085307434
ENG ; LOC102723566
1 1.000 0.080 9 127816075 non coding transcript exon variant A/G snv 0.700 1.000 2 2005 2008
dbSNP: rs121909288
rs121909288
ACVRL1
4 0.851 0.160 12 51920831 missense variant C/G;T snv 0.700 1.000 2 2001 2010
dbSNP: rs1085307405
rs1085307405
ACVRL1
2 0.925 0.160 12 51913236 missense variant C/T snv 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1085307407
rs1085307407
ACVRL1
1 1.000 0.080 12 51914050 missense variant A/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1085307408
rs1085307408
ACVRL1
1 1.000 0.080 12 51915240 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1085307409
rs1085307409
ACVRL1
1 1.000 0.080 12 51915270 missense variant T/C snv 0.700 1.000 1 2009 2009
dbSNP: rs1085307415
rs1085307415
ACVRL1
2 0.925 0.160 12 51916042 missense variant C/A snv 0.700 1.000 1 2009 2009
dbSNP: rs1085307416
rs1085307416
ACVRL1
2 0.925 0.160 12 51916111 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1085307418
rs1085307418
ACVRL1
1 1.000 0.080 12 51916182 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1085307420
rs1085307420
ACVRL1
1 1.000 0.080 12 51919018 missense variant A/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1085307422
rs1085307422
ACVRL1
1 1.000 0.080 12 51920766 stop gained C/G snv 0.700 1.000 1 2004 2004
dbSNP: rs1085307424
rs1085307424
ACVRL1
1 1.000 0.080 12 51920770 frameshift variant C/- delins 0.700 1.000 1 2012 2012
dbSNP: rs1085307427
rs1085307427
ACVRL1
1 1.000 0.080 12 51920831 frameshift variant C/TG delins 0.700 1.000 1 2004 2004
dbSNP: rs1085307428
rs1085307428
ACVRL1
2 0.925 0.160 12 51920841 missense variant A/C snv 0.700 1.000 1 2003 2003
dbSNP: rs1085307430
rs1085307430
ENG ; LOC105379841
1 1.000 0.080 9 127825698 frameshift variant CCGAG/- delins 0.700 1.000 1 2003 2003
dbSNP: rs1085307432
rs1085307432
ENG ; LOC102723566
1 1.000 0.080 9 127818810 frameshift variant A/- del 0.700 1.000 1 2003 2003
dbSNP: rs1085307433
rs1085307433
ENG ; LOC102723566
2 0.925 0.160 9 127818734 frameshift variant C/- delins 0.700 1.000 1 2004 2004
dbSNP: rs1085307435
rs1085307435
ENG ; LOC102723566
1 1.000 0.080 9 127815991 frameshift variant T/- del 0.700 1.000 1 2013 2013