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: rs1554108410
rs1554108410
DSP
0.882 0.120 6 7581072 frameshift variant AGGAG/TTCT delins
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.700 0
dbSNP: rs1554108410
rs1554108410
DSP
0.882 0.120 6 7581072 frameshift variant AGGAG/TTCT delins
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy dilated with Woolly hair and keratoderma 		0.700 0
dbSNP: rs1554108410
rs1554108410
DSP
0.882 0.120 6 7581072 frameshift variant AGGAG/TTCT delins
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		0.700 0