POC5, POC5 centriolar protein, 134359

N. diseases: 16; N. variants: 9
Disease: Idiopathic scoliosis ×
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: rs146984380
rs146984380 		1.000 0.040 5 75685328 missense variant G/A snv 7.7E-03 6.8E-03
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs34678567
rs34678567 		1.000 0.040 5 75685278 missense variant C/A;T snv 8.0E-06; 1.1E-02
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs763910203
rs763910203 		1.000 0.040 5 75685251 missense variant C/G snv 6.4E-05 1.0E-04
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015