CEP63, centrosomal protein 63, 80254

N. diseases: 44; N. variants: 15
Disease: SECKEL SYNDROME 6 ×
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: rs746387482
rs746387482 		1.000 3 134507245 stop gained -/TTAA delins 8.0E-06
CUI: C3553582
Disease: SECKEL SYNDROME 6
SECKEL SYNDROME 6 		0.700 1.000 1 2011 2011
dbSNP: rs1164567042
rs1164567042 		1.000 3 134507193 stop gained G/A;T snv 4.0E-06 1.4E-05
CUI: C3553582
Disease: SECKEL SYNDROME 6
SECKEL SYNDROME 6 		0.700 0
dbSNP: rs752207334
rs752207334 		1.000 3 134549061 splice acceptor variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C3553582
Disease: SECKEL SYNDROME 6
SECKEL SYNDROME 6 		0.700 0