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: rs587777384
rs587777384
ACTG2
2 1.000 0.040 2 73913566 missense variant G/A;T snv 0.800 1.000 6 2012 2016
dbSNP: rs78001248
rs78001248
ACTG2
2 0.925 0.080 2 73913565 missense variant C/T snv 0.800 1.000 6 2012 2016
dbSNP: rs587777383
rs587777383
ACTG2
4 0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06 0.800 1.000 4 2012 2014
dbSNP: rs587777385
rs587777385
ACTG2
1 1.000 0.040 2 73901429 missense variant C/T snv 0.800 1.000 4 2012 2014
dbSNP: rs587777386
rs587777386
ACTG2
3 0.882 0.040 2 73901430 missense variant G/A snv 0.800 1.000 4 2012 2014
dbSNP: rs587777387
rs587777387
ACTG2
4 0.882 0.040 2 73914835 missense variant C/T snv 0.800 1.000 4 2012 2014
dbSNP: rs587777388
rs587777388
ACTG2
1 1.000 0.040 2 73909088 missense variant T/A;C snv 4.0E-06 0.800 1.000 4 2012 2014
dbSNP: rs1057516046
rs1057516046
ACTG2
3 1.000 0.040 2 73913646 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1553787619
rs1553787619
MYLK
2 1.000 0.040 3 123664100 splice region variant C/A snv 0.700 1.000 1 2017 2017
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: rs786205435
rs786205435
MYH11
2 0.925 0.080 16 15732617 stop gained T/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1553396458
rs1553396458
ACTG2
1 1.000 0.040 2 73914698 missense variant G/A snv 0.700 0
dbSNP: rs587777870
rs587777870
ACTG2
1 1.000 0.040 2 73916584 missense variant GC/AA mnv 0.700 0
dbSNP: rs730880256
rs730880256
ACTG2
1 1.000 0.040 2 73909131 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs768290597
rs768290597
ACTG2
1 1.000 0.040 2 73902698 missense variant C/A snv 9.8E-05 1.2E-04 0.700 0
dbSNP: rs864309490
rs864309490
ACTG2
1 1.000 0.040 2 73902367 missense variant T/C snv 0.700 0
dbSNP: rs864309491
rs864309491
ACTG2
1 1.000 0.040 2 73902420 stop gained C/G;T snv 0.700 0
dbSNP: rs864309492
rs864309492
ACTG2
1 1.000 0.040 2 73913626 missense variant G/A snv 0.700 0