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: rs773317399
rs773317399
TCAP
1.000 17 39666015 missense variant C/A;T snv 1.6E-05
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 		0.800 1.000 0 2004 2006
dbSNP: rs104894655
rs104894655
TCAP
0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 		0.700 0
dbSNP: rs149585781
rs149585781
PNMT ; TCAP
0.925 0.040 17 39666063 missense variant G/A snv 2.1E-04 2.1E-04
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 		0.700 0
dbSNP: rs397516863
rs397516863
PNMT ; TCAP
0.925 0.080 17 39666077 missense variant C/A;G;T snv
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 		0.700 0
dbSNP: rs778568339
rs778568339
TCAP
0.925 0.080 17 39665382 frameshift variant -/AGGTGTCG delins 9.2E-05 1.4E-05
CUI: C4225408
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 		0.700 0