Source: CLINVAR ×
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 0 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 0 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 0 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: 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
dbSNP: rs137853197
rs137853197
NEXN
3 0.925 0.040 1 77942756 missense variant A/G snv 7.2E-05 1.0E-04 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: rs143139258
rs143139258
MYL2
4 0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-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: rs1566535410
rs1566535410
MYH7
5 0.851 0.080 14 23429297 missense variant T/C snv 0.700 0
dbSNP: rs267606908
rs267606908
MYH7
9 0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs267607003
rs267607003
RBM20
3 0.925 0.040 10 110812310 missense variant C/A;G;T snv 0.700 0
dbSNP: rs3218713
rs3218713
MYH7
10 0.763 0.160 14 23431468 missense variant C/A;T snv 0.700 0
dbSNP: rs3218714
rs3218714
MYH7
9 0.763 0.160 14 23429279 missense variant G/A;C snv 0.700 0
dbSNP: rs3218716
rs3218716
MYH7
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0