rs104894538, SALL1

N. diseases: 3
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 0.882 0.200 16 51141255 stop gained G/A snv 0.700 0
TOWNES-BROCKS SYNDROME 1
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
6 0.882 0.200 16 51141255 stop gained G/A snv 0.700 0
Townes-Brocks-Branchiootorenal-Like Syndrome
1 0.882 0.200 16 51141255 stop gained G/A snv 0.700 0