CEP128, centrosomal protein 128, 145508

N. diseases: 14; N. variants: 13
Disease: Graves Disease ×
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: rs12050151
rs12050151 		1.000 0.120 14 80902473 intron variant T/C;G snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2217177
rs2217177 		1.000 0.120 14 80948810 intron variant T/C snv 0.43
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs8022600
rs8022600 		1.000 0.120 14 80955079 5 prime UTR variant G/T snv 0.50
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2234919
rs2234919 		0.925 0.160 14 80955834 missense variant C/A;G snv 6.8E-02; 1.2E-05
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.050 0.600 5 1999 2003
dbSNP: rs2239610
rs2239610 		1.000 0.120 14 80955913 non coding transcript exon variant G/C snv 0.21
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs327463
rs327463 		0.925 0.120 14 80784911 missense variant T/C;G snv 0.38; 4.1E-06
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs61747482
rs61747482 		1.000 0.120 14 80955786 missense variant G/C snv 5.2E-03 5.0E-03
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2002 2002