IGF2R, insulin like growth factor 2 receptor, 3482

N. diseases: 166; N. variants: 18
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: rs8191754
rs8191754 		0.925 0.080 6 160027292 missense variant C/G snv 0.13 0.13
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs121434587
rs121434587 		1.000 0.080 6 160069961 missense variant G/T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121434588
rs121434588 		1.000 0.080 6 160070006 missense variant G/A snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs614754
rs614754 		6 160084167 synonymous variant C/G snv 0.99 0.99
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 2017
dbSNP: rs998075
rs998075 		0.882 0.040 6 160047246 synonymous variant A/G snv 0.53 0.54
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs998075
rs998075 		0.882 0.040 6 160047246 synonymous variant A/G snv 0.53 0.54
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs998075
rs998075 		0.882 0.040 6 160047246 synonymous variant A/G snv 0.53 0.54
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1479355
rs1479355 		1.000 0.040 6 160109594 3 prime UTR variant T/C snv 0.31
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015