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: rs1553787823
rs1553787823
MYLK
4 0.882 0.120 3 123664245 frameshift variant -/GCTTTCC delins 0.700 1.000 1 2017 2017
dbSNP: rs777696417
rs777696417
LMOD1
4 0.882 0.120 1 201899905 stop gained G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1057518868
rs1057518868
FOXF1 ; FENDRR
3 0.925 0.080 16 86510849 missense variant A/T snv 0.700 0
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
14 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2012 2012