rs12676, CHDH

N. diseases: 5
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.
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.827 0.240 3 53823776 missense variant A/C;T snv 0.77 0.010 1.000 1 2008 2008
Choline Deficiency
CUI: C0008412
Disease: Choline Deficiency
4 0.827 0.240 3 53823776 missense variant A/C;T snv 0.77 0.010 1.000 1 2006 2006
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.827 0.240 3 53823776 missense variant A/C;T snv 0.77 0.010 1.000 1 2017 2017
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.827 0.240 3 53823776 missense variant A/C;T snv 0.77 0.010 1.000 1 2017 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.827 0.240 3 53823776 missense variant A/C;T snv 0.77 0.010 1.000 1 2008 2008