rs794728137, DSP

N. diseases: 6
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, Familial, 8
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
69 0.807 0.120 6 7565507 frameshift variant -/G delins 0.700 1.000 2 2015 2017
Cardiomyopathy dilated with Woolly hair and keratoderma
CUI: C1854063
Disease: Cardiomyopathy dilated with Woolly hair and keratoderma
54 0.807 0.120 6 7565507 frameshift variant -/G delins 0.700 1.000 2 2015 2017
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
CUI: C4014393
Disease: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
8 0.807 0.120 6 7565507 frameshift variant -/G delins 0.700 0
Epidermolysis bullosa, lethal acantholytic
CUI: C1864826
Disease: Epidermolysis bullosa, lethal acantholytic
5 0.807 0.120 6 7565507 frameshift variant -/G delins 0.700 0
KERATOSIS PALMOPLANTARIS STRIATA II
CUI: C1852127
Disease: KERATOSIS PALMOPLANTARIS STRIATA II
4 0.807 0.120 6 7565507 frameshift variant -/G delins 0.700 0
Skin Fragility-Woolly Hair Syndrome
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
7 0.807 0.120 6 7565507 frameshift variant -/G delins 0.700 0