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: rs35049558
rs35049558
MYL2
8 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs730880092
rs730880092
DSP
1 6 7583572 frameshift variant A/- del 5.2E-05 2.8E-05 0.700 1.000 1 2010 2010
dbSNP: rs1553663867
rs1553663867
TTN ; TTN-AS1
3 0.925 0.160 2 178598969 frameshift variant G/- del 0.700 0
dbSNP: rs1553707780
rs1553707780
TTN ; TTN-AS1
4 0.925 0.040 2 178616928 frameshift variant T/- del 0.700 0
dbSNP: rs1555122928
rs1555122928
MYBPC3
2 1.000 0.080 11 47347434 frameshift variant C/- del 0.700 0
dbSNP: rs1559262463
rs1559262463
TTN ; TTN-AS1
1 2 178558000 frameshift variant A/- del 0.700 0
dbSNP: rs1559556267
rs1559556267
TTN ; TTN-AS1
1 2 178588040 frameshift variant CTGCA/- del 0.700 0
dbSNP: rs1565623439
rs1565623439
MYBPC3
1 11 47333627 frameshift variant TGAAT/- del 0.700 0
dbSNP: rs1565627110
rs1565627110
MYBPC3
1 11 47341145 frameshift variant G/- del 0.700 0
dbSNP: rs1565631430
rs1565631430
MYBPC3
2 1.000 0.080 11 47350600 frameshift variant ATGGGCTCTG/- del 0.700 0
dbSNP: rs1566147422
rs1566147422
MYL2
1 12 110911146 frameshift variant AG/- del 0.700 0
dbSNP: rs397515934
rs397515934
MYBPC3
3 0.925 0.080 11 47341140 frameshift variant A/- del 0.700 0
dbSNP: rs397517408
rs397517408
DSC2
2 1.000 0.080 18 31093617 frameshift variant G/- del 0.700 0
dbSNP: rs727503166
rs727503166
MYBPC3
5 0.851 0.080 11 47332110 frameshift variant T/- del 0.700 0
dbSNP: rs727503172
rs727503172
MYBPC3
4 0.882 0.080 11 47333236 frameshift variant C/- del 0.700 0
dbSNP: rs727504466
rs727504466
TTN ; TTN-AS1
2 2 178591326 frameshift variant T/- del 0.700 0
dbSNP: rs730880655
rs730880655
MYBPC3
1 11 47336010 frameshift variant A/- del 0.700 0
dbSNP: rs730880714
rs730880714
MYBPC3
1 11 47337721 frameshift variant C/- del 0.700 0
dbSNP: rs730880715
rs730880715
MYBPC3
1 11 47337450 frameshift variant G/- del 0.700 0
dbSNP: rs730880717
rs730880717
MYBPC3
1 11 47335038 splice donor variant TCACGCAGGATCTCCT/- del 0.700 0
dbSNP: rs794729354
rs794729354
TTN ; TTN-AS1
1 2 178559741 frameshift variant AGTAC/- del 0.700 0
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
4 0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05 0.700 1.000 3 2006 2013
dbSNP: rs386134209
rs386134209
SLC22A5
2 1.000 0.160 5 132387039 frameshift variant C/-;CC delins 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs769139957
rs769139957
ALPK3
1 15 84840691 frameshift variant C/-;CC delins 0.700 1.000 1 2017 2017
dbSNP: rs1554398705
rs1554398705
FLNC
1 7 128842906 frameshift variant -/C delins 0.700 0