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: rs1554093433
rs1554093433
NKX2-5
4 0.925 0.080 5 173232833 stop gained G/T snv 0.700 0
dbSNP: rs190140598
rs190140598
RYR2
4 0.851 0.120 1 237445488 missense variant C/A;T snv 1.2E-05 0.700 0