Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2235611
rs2235611 		1.000 0.160 20 43460871 synonymous variant T/C snv 0.84 0.89
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6103330
rs6103330 		1.000 0.040 20 43458814 intron variant T/C;G snv
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs767348594
rs767348594 		1.000 0.080 20 43460532 missense variant G/A snv 3.6E-05 1.4E-05
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2011 2011