rs587781858, TP53

N. diseases: 12
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
21 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
Amyotrophic Lateral Sclerosis, Sporadic
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
90 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
Fast acetylator due to N-acetyltransferase enzyme variant
CUI: C1827820
Disease: Fast acetylator due to N-acetyltransferase enzyme variant
9 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
Malignant neoplasm of cheek mucosa
CUI: C0153373
Disease: Malignant neoplasm of cheek mucosa
1 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
Malignant neoplasm of tongue
CUI: C0153349
Disease: Malignant neoplasm of tongue
1 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
Tongue Carcinoma
CUI: C0558353
Disease: Tongue Carcinoma
2 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017