rs727504443, DSP

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Arrhythmogenic Right Ventricular Dysplasia
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
136 0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 0.700 1.000 6 1999 2014
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 0.700 1.000 6 1999 2014
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
69 0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 0.700 1.000 4 1999 2014
Cardiomyopathy dilated with Woolly hair and keratoderma
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
54 0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 0.700 1.000 4 1999 2014
KERATOSIS PALMOPLANTARIS STRIATA II
CUI: C1852127
Disease: KERATOSIS PALMOPLANTARIS STRIATA II
4 0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 0.700 0