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: rs1554615536
rs1554615536
1.000 0.040 8 71269774 frameshift variant AGGA/- delins
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0