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: rs17415853
rs17415853 		12 15777871 intron variant T/C snv 2.0E-02
CUI: C0373607
Disease: Ferritin measurement
Ferritin measurement 		0.700 1.000 1 2008 2008
dbSNP: rs17415853
rs17415853 		12 15777871 intron variant T/C snv 2.0E-02
CUI: C0696113
Disease: Serum ferritin measurement
Serum ferritin measurement 		0.700 1.000 1 2008 2008
dbSNP: rs180899529
rs180899529 		12 15669833 splice region variant T/C;G snv 2.7E-05; 9.1E-06
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs587777691
rs587777691 		1.000 12 15681274 stop gained G/A snv
CUI: C3892050
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 102
DEAFNESS, AUTOSOMAL RECESSIVE 102 		0.700 0