Source: ALL

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: rs5333
rs5333
EDNRA
0.827 0.280 4 147539885 synonymous variant T/C snv 0.28 0.34
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs5333
rs5333
EDNRA
0.827 0.280 4 147539885 synonymous variant T/C snv 0.28 0.34
CUI: C1275047
Disease: Radiation-induced xerostomia
Radiation-induced xerostomia 		0.010 1.000 1 2017 2017
dbSNP: rs5333
rs5333
EDNRA
0.827 0.280 4 147539885 synonymous variant T/C snv 0.28 0.34
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs5333
rs5333
EDNRA
0.827 0.280 4 147539885 synonymous variant T/C snv 0.28 0.34
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs5333
rs5333
EDNRA
0.827 0.280 4 147539885 synonymous variant T/C snv 0.28 0.34
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change 		0.010 1.000 1 2019 2019