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: rs990771026
rs990771026
TNNT2
1 1.000 0.040 1 201359647 missense variant T/C snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs915012109
rs915012109
SMYD1
3 0.925 0.040 2 88096710 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs886039185
rs886039185
MYH7
2 0.925 0.080 14 23425360 missense variant C/T snv 0.700 0
dbSNP: rs886037902
rs886037902
MYBPC3
2 0.925 0.080 11 47346369 splice acceptor variant CC/- delins 0.700 0
dbSNP: rs886037900
rs886037900
MYBPC3
2 0.925 0.080 11 47342883 frameshift variant C/- delins 0.700 0
dbSNP: rs878853842
rs878853842
MYH7
1 1.000 0.040 14 23431453 missense variant G/T snv 0.700 0
dbSNP: rs878853831
rs878853831
MYBPC3
1 1.000 0.040 11 47342141 frameshift variant ACCTCCAG/- del 0.700 0
dbSNP: rs876657887
rs876657887
MYH7
1 1.000 0.040 14 23431640 missense variant G/A snv 0.700 0
dbSNP: rs876657706
rs876657706
MYBPC3
1 1.000 0.040 11 47332681 frameshift variant T/- delins 0.700 0
dbSNP: rs876657705
rs876657705
MYBPC3
2 0.925 0.080 11 47335158 frameshift variant A/- del 0.700 0
dbSNP: rs876657703
rs876657703
MYBPC3
2 0.925 0.080 11 47342842 frameshift variant -/C delins 0.700 0
dbSNP: rs876657702
rs876657702
MYBPC3
1 1.000 0.040 11 47346222 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs868819340
rs868819340
MYBPC3
1 1.000 0.040 11 47351239 stop gained C/A;G snv 0.700 0
dbSNP: rs868584399
rs868584399
MYBPH
1 1.000 0.040 1 203175396 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs864622224
rs864622224
MYBPC3
1 1.000 0.040 11 47351369 frameshift variant C/- del 0.700 0
dbSNP: rs863224900
rs863224900
MYH7
6 0.807 0.160 14 23428534 missense variant A/C;G;T snv 0.700 0
dbSNP: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.010 1.000 1 2007 2007
dbSNP: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.710 1.000 3 2007 2016
dbSNP: rs796553039
rs796553039
MYH7
1 1.000 0.040 14 23429026 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs796051877
rs796051877
GAA
11 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs794727046
rs794727046
MYBPC3
1 1.000 0.040 11 47346207 missense variant C/G;T snv 0.700 0
dbSNP: rs79023478
rs79023478
OBSCN
2 1.000 0.040 1 228315865 missense variant G/A snv 8.4E-03 3.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs786204951
rs786204951
ACTN2
2 0.925 0.040 1 236753990 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs786204339
rs786204339
MYBPC3
1 1.000 0.040 11 47342910 frameshift variant GG/-;G delins 0.700 0
dbSNP: rs786204329
rs786204329
MYBPC3
2 0.925 0.080 11 47348494 frameshift variant -/AAGGCAGGCTGGGCATCGGTGATGTG delins 0.700 0