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: rs121918401
rs121918401
ENG ; LOC102723566
1 1.000 0.120 9 127819934 missense variant C/A;T snv 8.0E-06 0.800 1.000 14 1994 2011
dbSNP: rs1554810378
rs1554810378
ENG ; LOC105379841
2 0.925 0.120 9 127825722 missense variant A/G snv 0.800 1.000 12 1994 2010
dbSNP: rs1434169817
rs1434169817
ENG ; LOC102723566
1 1.000 0.120 9 127819624 missense variant G/A snv 7.0E-06 0.800 0
dbSNP: rs863223538
rs863223538
ENG ; LOC102723566
2 0.925 0.120 9 127818220 missense variant C/T snv 4.0E-06 0.800 0
dbSNP: rs763475207
rs763475207
ENG ; LOC102723566
1 1.000 0.120 9 127818337 missense variant A/G snv 4.0E-06 0.700 1.000 12 1994 2010
dbSNP: rs878853657
rs878853657
ENG ; LOC105379841
2 0.925 0.120 9 127826586 missense variant C/G snv 0.700 1.000 12 1994 2010
dbSNP: rs1057517944
rs1057517944
ACVRL1
3 0.882 0.160 12 51920816 stop gained C/T snv 4.0E-06 0.700 1.000 10 2004 2014
dbSNP: rs1555153354
rs1555153354
ACVRL1
1 1.000 0.120 12 51916191 missense variant G/A snv 0.700 1.000 2 2006 2007
dbSNP: rs1554809450
rs1554809450
ENG ; LOC102723566
1 1.000 0.120 9 127819627 stop gained G/A snv 0.700 1.000 1 2006 2006
dbSNP: rs373842615
rs373842615
ENG ; LOC102723566
2 0.925 0.120 9 127819662 splice acceptor variant T/C snv 4.2E-06 0.700 1.000 1 2006 2006
dbSNP: rs1060501410
rs1060501410
ENG ; LOC105379841
2 0.925 0.120 9 127824800 missense variant C/T snv 0.700 0
dbSNP: rs1060501415
rs1060501415
ENG ; LOC105379841
1 1.000 0.120 9 127825334 missense variant A/T snv 0.700 0
dbSNP: rs111471193
rs111471193
ENG ; LOC105379841
1 1.000 0.120 9 127825230 splice donor variant C/T snv 0.700 0
dbSNP: rs1131691422
rs1131691422
ENG ; LOC102723566
1 1.000 0.120 9 127819976 frameshift variant CT/- del 0.700 0
dbSNP: rs1131691444
rs1131691444
ENG ; LOC102723566
1 1.000 0.120 9 127819977 frameshift variant T/- del 0.700 0
dbSNP: rs116330805
rs116330805
ENG ; LOC102723566
1 1.000 0.120 9 127818296 missense variant C/T snv 1.2E-03 3.0E-03 0.700 0
dbSNP: rs1197761705
rs1197761705
ENG ; LOC102723566
1 1.000 0.120 9 127818327 stop gained G/A;T snv 0.700 0
dbSNP: rs121918400
rs121918400
ENG ; LOC105379841
2 0.925 0.120 9 127824960 stop gained G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs121918402
rs121918402
ENG ; LOC105379841
1 1.000 0.120 9 127829687 stop gained G/A;T snv 8.0E-05 0.700 0
dbSNP: rs1329127701
rs1329127701
ENG ; LOC105379841
2 0.925 0.120 9 127824304 splice region variant C/T snv 0.700 0
dbSNP: rs1554810066
rs1554810066
ENG ; LOC105379841
4 0.925 0.160 9 127824414 frameshift variant ATCGGTGCGG/- delins 0.700 0
dbSNP: rs1554810408
rs1554810408
ENG ; LOC105379841
2 0.925 0.120 9 127825792 inframe deletion CGCCACTCGAGC/- delins 0.700 0
dbSNP: rs1554810506
rs1554810506
ENG ; LOC105379841
1 1.000 0.120 9 127826625 frameshift variant T/- del 0.700 0
dbSNP: rs1554813783
rs1554813783
ENG
1 1.000 0.120 9 127854288 splice donor variant C/T snv 0.700 0
dbSNP: rs1555152440
rs1555152440
ACVRL1
1 1.000 0.120 12 51913136 frameshift variant -/T delins 0.700 0