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: rs727504443
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 6 1999 2014
dbSNP: rs727504443
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 1.000 6 1999 2014
dbSNP: rs727504443
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 1.000 4 1999 2014
dbSNP: rs727504443
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 1.000 4 1999 2014
dbSNP: rs727504443
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06
CUI: C1852127
Disease: KERATOSIS PALMOPLANTARIS STRIATA II
KERATOSIS PALMOPLANTARIS STRIATA II 		0.700 0