Gene: ACVRL1 ×
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: 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: rs1555152440
rs1555152440
ACVRL1
1 1.000 0.120 12 51913136 frameshift variant -/T delins 0.700 0
dbSNP: rs863223414
rs863223414
ACVRL1
2 0.925 0.120 12 51913237 missense variant G/A;C snv 0.700 0