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: rs121913643
rs121913643
MYH7
1 1.000 0.040 14 23425413 missense variant G/A;C snv 4.0E-06 0.800 1.000 6 2000 2012
dbSNP: rs121913645
rs121913645
MYH7
1 1.000 0.040 14 23431650 missense variant C/T snv 4.0E-06 0.800 1.000 6 2000 2012
dbSNP: rs121913646
rs121913646
MYH7
1 1.000 0.040 14 23427271 missense variant G/A snv 0.700 1.000 6 2000 2012
dbSNP: rs397516208
rs397516208
MYH7 ; MIR208B ; MHRT
1 1.000 0.040 14 23417580 missense variant C/T snv 0.700 1.000 6 2000 2012
dbSNP: rs397516232
rs397516232
MYH7 ; MHRT
1 1.000 0.040 14 23416057 missense variant G/A;T snv 1.2E-05; 1.2E-05 0.700 1.000 6 2000 2012
dbSNP: rs755392435
rs755392435
MYH7
1 1.000 0.040 14 23423590 missense variant G/T snv 1.6E-05 2.1E-05 0.700 1.000 6 2000 2012
dbSNP: rs758889483
rs758889483
MYH7 ; MIR208B
1 1.000 0.040 14 23419548 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 6 2000 2012
dbSNP: rs886039090
rs886039090
MYH7 ; MIR208B
1 1.000 0.040 14 23419994 missense variant G/T snv 0.700 1.000 6 2000 2012
dbSNP: rs45451303
rs45451303
MYH7 ; MIR208B
1 1.000 0.040 14 23418304 missense variant G/A;T snv 8.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs1114167322
rs1114167322
MYH7 ; MHRT
1 1.000 0.040 14 23415164 missense variant A/G snv 0.700 0
dbSNP: rs1114167323
rs1114167323
TTN ; TTN-AS1
1 1.000 0.040 2 178584515 frameshift variant GC/- del 0.700 0
dbSNP: rs1114167324
rs1114167324
TTN ; TTN-AS1
1 1.000 0.040 2 178590043 stop gained G/C snv 0.700 0
dbSNP: rs1114167327
rs1114167327
DES
1 1.000 0.040 2 219425706 frameshift variant ACGG/- delins 0.700 0
dbSNP: rs1114167331
rs1114167331
RBM20
1 1.000 0.040 10 110812301 missense variant C/G snv 0.700 0
dbSNP: rs1114167332
rs1114167332
DES
1 1.000 0.040 2 219418955 protein altering variant CAGGTGGAGGTGCTCACTAACCAGCGCG/GCGT delins 0.700 0
dbSNP: rs1114167333
rs1114167333
TTN ; TTN-AS1
1 1.000 0.040 2 178633449 frameshift variant CA/- delins 0.700 0
dbSNP: rs1114167335
rs1114167335
TTN ; TTN-AS1
1 1.000 0.040 2 178603919 frameshift variant A/- del 0.700 0
dbSNP: rs142191737
rs142191737
LMNA
1 1.000 0.040 1 156137679 missense variant G/A snv 2.3E-04 2.4E-04 0.700 0
dbSNP: rs1553939749
rs1553939749
TTN ; TTN-AS1
1 1.000 0.040 2 178740785 frameshift variant GGGAGATGGTT/- delins 0.700 0
dbSNP: rs1555337916
rs1555337916
MYH7
1 1.000 0.040 14 23426012 missense variant C/T snv 0.700 0
dbSNP: rs750836033
rs750836033
MYH7 ; MIR208B
1 1.000 0.040 14 23418303 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs750987717
rs750987717
MYH7 ; MHRT
1 1.000 0.040 14 23416240 missense variant C/T snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs757922359
rs757922359
PKP2
1 1.000 0.040 12 32821466 missense variant G/A;C snv 0.700 0
dbSNP: rs794729356
rs794729356
TTN ; TTN-AS1
1 1.000 0.040 2 178557999 frameshift variant C/- del 0.700 0
dbSNP: rs201307101
rs201307101
MYH7 ; MHRT
2 0.925 0.080 14 23417295 missense variant C/A;G;T snv 3.0E-04; 4.0E-06 0.700 1.000 6 2000 2012