SERPINB10, serpin family B member 10, 5273

N. diseases: 7; N. variants: 4
Disease: Homocysteinemia ×
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: rs141012637
rs141012637 		0.851 0.320 18 63901881 stop gained C/A;T snv 7.0E-05
CUI: C3495426
Disease: Homocysteinemia
Homocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1997 1997