CEP128, centrosomal protein 128, 145508

N. diseases: 14; N. variants: 13
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: rs10162376
rs10162376 		1.000 0.080 14 80564149 intron variant T/C snv 3.0E-02
CUI: C2076600
Disease: Influenza due to Influenza A virus subtype H1N1
Influenza due to Influenza A virus subtype H1N1 		Infections; Respiratory Tract Diseases 0.700 1.000 1 2015 2015
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: rs162171
rs162171 		14 80794033 intron variant A/C snv 0.64
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs17111237
rs17111237 		14 80939997 intron variant A/G snv 0.15
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2019 2019
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: rs935728
rs935728 		14 80491580 intron variant C/T snv 0.27
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs121908869
rs121908869 		0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06
CUI: C1846135
Disease: Autistic features
Autistic features 		0.700 0
dbSNP: rs121908869
rs121908869 		0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.700 0
dbSNP: rs121908869
rs121908869 		0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06
CUI: C3493776
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121908869
rs121908869 		0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 0
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: rs121908869
rs121908869 		0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2234919
rs2234919 		0.925 0.160 14 80955834 missense variant C/A;G snv 6.8E-02; 1.2E-05
CUI: C0342208
Disease: Multinodular goiter
Multinodular goiter 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2013 2013
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: rs327463
rs327463 		0.925 0.120 14 80784911 missense variant T/C;G snv 0.38; 4.1E-06
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs45499704
rs45499704 		1.000 0.120 14 80955780 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
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