NIN, ninein, 51199

N. diseases: 52; N. variants: 7
Disease: SECKEL SYNDROME 7 ×
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: rs387907308
rs387907308 		1.000 14 50744304 missense variant T/C;G snv 3.0E-04
CUI: C3553870
Disease: SECKEL SYNDROME 7
SECKEL SYNDROME 7 		0.700 0
dbSNP: rs747680111
rs747680111 		1.000 14 50758548 frameshift variant T/- del 7.0E-06
CUI: C3553870
Disease: SECKEL SYNDROME 7
SECKEL SYNDROME 7 		0.700 0