Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2856655
rs2856655
MYBPC3
0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.800 0
dbSNP: rs2856655
rs2856655
MYBPC3
0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 9 2003 2016
dbSNP: rs2856655
rs2856655
MYBPC3
0.851 0.080 11 47337534 missense variant C/G;T snv 2.0E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 8 2003 2014