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: rs9457827
rs9457827 		1.000 0.040 6 160082624 intron variant C/T snv 0.15
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs998074
rs998074 		0.882 0.040 6 160047351 intron variant T/A;C snv 0.53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs998074
rs998074 		0.882 0.040 6 160047351 intron variant T/A;C snv 0.53
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs998074
rs998074 		0.882 0.040 6 160047351 intron variant T/A;C snv 0.53
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		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: 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