Source: CURATED ×
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: rs564856283
rs564856283
MYBPC1
3 12 101642495 missense variant G/A;C snv 3.2E-05 0.700 0
dbSNP: rs879253979
rs879253979
DYNC1H1
4 0.925 0.120 14 101979951 missense variant C/G;T snv 0.700 0
dbSNP: rs545623839
rs545623839
MYH2 ; MYHAS
2 1.000 0.160 17 10533349 stop gained G/A snv 2.4E-05 0.700 0
dbSNP: rs121909092
rs121909092
DNM2
4 0.882 0.120 19 10793829 missense variant G/A snv 0.700 0
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
3 0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs1565930588
rs1565930588
HSPB8
19 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
dbSNP: rs10872257
rs10872257 		1 6 122969896 intergenic variant C/T snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs61865606
rs61865606
LOC105378568
1 10 132440647 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs55960271
rs55960271
CLCN1
5 0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 0.700 0
dbSNP: rs77051277
rs77051277
LOC105371433
1 1 150167075 downstream gene variant A/G snv 2.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs6925743
rs6925743
PPP1R14C
1 6 150170920 intron variant T/A snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs1057516031
rs1057516031
MTM1
3 1.000 0.080 X 150598681 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs797046047
rs797046047
TPM3
2 1.000 0.080 1 154170441 missense variant C/A snv 0.700 0
dbSNP: rs1557182317
rs1557182317
EMD
3 0.925 0.160 X 154379790 frameshift variant -/T delins 0.700 0
dbSNP: rs1057518905
rs1057518905
DPM3
3 1 155140104 missense variant A/T snv 0.700 0
dbSNP: rs199474699
rs199474699
CYTB ; ND6 ; TRNP
1 MT 15990 non coding transcript exon variant C/T snv 0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
8 1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
dbSNP: rs1057518851
rs1057518851
TTN ; TTN-AS1
1 2 178571565 stop gained C/T snv 0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
33 0.742 0.320 2 178589003 stop gained G/A;T snv 0.700 0
dbSNP: rs797046064
rs797046064
TTN ; TTN-AS1
1 2 178634010 frameshift variant CAAA/- delins 0.700 0
dbSNP: rs1198364572
rs1198364572
TTN ; TTN-AS1
1 2 178671132 frameshift variant -/T delins 0.700 0
dbSNP: rs746721983
rs746721983
TTN ; TTN-AS1
1 2 178706629 stop gained G/A snv 2.8E-05 2.1E-05 0.700 0
dbSNP: rs797046060
rs797046060
TTN ; TTN-AS1
1 2 178719588 frameshift variant GC/T delins 0.700 0
dbSNP: rs4149056
rs4149056
SLCO1B1
11 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.790 1.000 1 2008 2019