rs2435357, RET

N. diseases: 8
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.
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.900 0.923 13 2011 2019
Congenital Intestinal Aganglionosis
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
16 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.700 1.000 1 2019 2019
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
52 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.010 1.000 1 2016 2016
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.010 1.000 1 2012 2012
Developmental Disabilities
CUI: C0008073
Disease: Developmental Disabilities
19 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.010 1.000 1 2009 2009
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.010 1.000 1 2012 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.010 1.000 1 2016 2016