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: rs1057518920
rs1057518920
DSP
5 0.925 0.080 6 7575386 stop gained C/A snv 0.700 0
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
7 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.700 0
dbSNP: rs143978652
rs143978652
MYH6
4 0.882 0.080 14 23393437 missense variant C/A;T snv 9.3E-04; 4.0E-06 0.700 0
dbSNP: rs62641689
rs62641689
HCN4
2 15 73323818 missense variant C/A;T snv 3.2E-03 0.700 0
dbSNP: rs71352737
rs71352737
TRPM4
1 19 49182889 stop gained G/A snv 1.5E-03 1.6E-03 0.700 0