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: rs1114167327
rs1114167327
DES
1 1.000 0.040 2 219425706 frameshift variant ACGG/- delins 0.700 0
dbSNP: rs1114167332
rs1114167332
DES
1 1.000 0.040 2 219418955 protein altering variant CAGGTGGAGGTGCTCACTAACCAGCGCG/GCGT delins 0.700 0
dbSNP: rs397516695
rs397516695
DES
1 0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 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: rs59026483
rs59026483
LMNA
2 0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs59684335
rs59684335
LMNA
3 0.882 0.120 1 156135280 frameshift variant CT/- delins 0.700 0
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: rs121913628
rs121913628
MYH7
10 0.763 0.160 14 23424059 missense variant C/G;T snv 0.700 0
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: 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: 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
dbSNP: rs397516089
rs397516089
MYH7
4 0.827 0.080 14 23429807 missense variant C/G;T snv 0.700 0
dbSNP: rs397516127
rs397516127
MYH7
9 0.763 0.160 14 23426834 missense variant G/A;C snv 0.700 0
dbSNP: rs397516171
rs397516171
MYH7
9 0.763 0.160 14 23424041 missense variant C/G;T snv 0.700 0
dbSNP: rs397516264
rs397516264
MYH7
9 0.763 0.160 14 23431602 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs606231324
rs606231324
MYH7
5 0.851 0.080 14 23428505 missense variant C/G;T snv 0.700 0
dbSNP: rs727504753
rs727504753
MYH7
6 0.807 0.160 14 23429345 missense variant C/T snv 0.700 0
dbSNP: rs863224900
rs863224900
MYH7
6 0.807 0.160 14 23428534 missense variant A/C;G;T snv 0.700 0