rs104894537, SALL1

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.
Townes syndrome
CUI: C0265246
Disease: Townes syndrome
9 0.925 0.200 16 51141396 stop gained G/A;T snv 1.2E-05 0.710 1.000 2 1999 2002
TOWNES-BROCKS SYNDROME 1
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
6 0.925 0.200 16 51141396 stop gained G/A;T snv 1.2E-05 0.700 1.000 1 2003 2003