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: rs629849
rs629849
0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 2 2018 2018
dbSNP: rs146203232
rs146203232
1.000 0.080 6 160100853 intron variant C/T snv 5.0E-02
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs146203232
rs146203232
1.000 0.080 6 160100853 intron variant C/T snv 5.0E-02
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2297363
rs2297363
6 160085430 intron variant G/A snv 0.14
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2017 2017
dbSNP: rs3777404
rs3777404
6 160077017 intron variant G/A snv 0.14
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
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: rs688359
rs688359
1.000 0.040 6 160044259 intron variant G/A snv 0.57
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs71793166
rs71793166
6 159974255 intron variant TTCTT/-;TTCTTTTCTT delins 6.2E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs920811
rs920811
6 160075211 intron variant T/G snv 0.45
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2019 2019
dbSNP: rs9457800
rs9457800
6 159990715 intron variant C/T snv 0.11
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs998203
rs998203
6 160096856 intron variant C/T snv 0.45
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
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: 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
dbSNP: rs629849
rs629849
0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs629849
rs629849
0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs629849
rs629849
0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs629849
rs629849
0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs629849
rs629849
0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs629849
rs629849
0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs629849
rs629849
0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs629849
rs629849
0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs642588
rs642588
0.925 0.120 6 159990235 intron variant A/G snv 0.83
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs642588
rs642588
0.925 0.120 6 159990235 intron variant A/G snv 0.83
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs8191754
rs8191754
0.925 0.080 6 160027292 missense variant C/G snv 0.13 0.13
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012