rs111033631, TIMM8A

N. diseases: 2
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.
MOHR-TRANEBJAERG SYNDROME
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
19 0.925 0.280 X 101348595 stop gained C/A;G snv 5.5E-06 0.700 0
Jensen syndrome
CUI: C1839564
Disease: Jensen syndrome
1 0.925 0.280 X 101348595 stop gained C/A;G snv 5.5E-06 0.010 1.000 1 2001 2001