DNA2, DNA replication helicase/nuclease 2, 1763

N. diseases: 71; N. variants: 6
Disease: SECKEL SYNDROME 8 ×
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: rs587777614
rs587777614 		0.882 0.160 10 68416703 frameshift variant G/- delins
CUI: C3891452
Disease: SECKEL SYNDROME 8
SECKEL SYNDROME 8 		0.700 0