rs1237063529, CBS

N. diseases: 13
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.
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.040 1.000 4 2005 2013
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.030 1.000 3 2005 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.030 1.000 3 2003 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2002 2002
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
45 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2018 2018
Lip and Oral Cavity Carcinoma
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
172 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2016 2016
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2002 2002
Malignant neoplasm of mouth
CUI: C0153381
Disease: Malignant neoplasm of mouth
184 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2016 2016
Multiple Sclerosis, Relapsing-Remitting
CUI: C0751967
Disease: Multiple Sclerosis, Relapsing-Remitting
7 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2014 2014
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
122 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2001 2001
Obesity
CUI: C0028754
Disease: Obesity
1111 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2007 2007
Vitiligo
CUI: C0042900
Disease: Vitiligo
249 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2020 2020
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
92 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2020 2020