rs121918279, EXT2

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.
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
27 0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06 0.700 1.000 5 1996 2014
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
432 0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06 0.700 0
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
CUI: C4225248
Disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
6 0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06 0.700 0