Disease: Fanconi Syndrome ×
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: rs113994205
rs113994205 		0.827 0.160 17 3655305 stop gained G/A snv 4.8E-05 9.8E-05
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2002 2019
dbSNP: rs121908125
rs121908125 		0.882 0.160 17 3655304 stop gained G/A;C snv 8.0E-06
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2002 2019