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: rs886042883
2 237359205 splice donor variant C/A,T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 13 2001 2017