TTI2, TELO2 interacting protein 2, 80185

N. diseases: 28; N. variants: 5
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: rs398122367
rs398122367 		1.000 8 33500443 missense variant A/T snv 4.0E-06
CUI: C3809853
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 		0.800 1.000 1 2013 2013
dbSNP: rs10094645
rs10094645 		8 33502689 intron variant G/A snv 0.53
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7841518
rs7841518 		8 33506102 intron variant G/C snv 0.64
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs398122366
rs398122366 		1.000 8 33503763 missense variant G/A;C;T snv 3.6E-05; 4.0E-06; 4.0E-06
CUI: C3809853
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 		0.700 0
dbSNP: rs1230416942
rs1230416942 		0.925 0.080 8 33498547 missense variant G/C snv 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1230416942
rs1230416942 		0.925 0.080 8 33498547 missense variant G/C snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1230416942
rs1230416942 		0.925 0.080 8 33498547 missense variant G/C snv 7.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2006 2006