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: rs121913642
rs121913642
MYH7
3 0.925 0.080 14 23427879 missense variant A/G snv 0.800 1.000 6 2000 2012
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: 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
dbSNP: rs397515482
rs397515482
MYH7
2 0.925 0.040 14 23430949 missense variant A/C 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: rs397516258
rs397516258
MYH7
2 1.000 0.040 14 23431798 missense variant A/G;T snv 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: rs371898076
rs371898076
MYH7
9 0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05 0.700 1.000 5 1999 2014
dbSNP: rs267606910
rs267606910
MYH7
6 0.807 0.080 14 23431589 missense variant C/T snv 8.0E-06 0.700 1.000 1 2008 2008
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: rs727503253
rs727503253
MYH7
2 1.000 0.040 14 23424119 missense variant G/A snv 4.0E-06 0.700 1.000 1 2011 2011
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: rs121913628
rs121913628
MYH7
10 0.763 0.160 14 23424059 missense variant C/G;T snv 0.700 0