SALL1, spalt like transcription factor 1, 6299

N. diseases: 156; N. variants: 16
Disease: TOWNES-BROCKS SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894537
rs104894537
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C4551481
Disease:
TOWNES-BROCKS SYNDROME 1 		A 0.700 CausalMutation CLINVAR High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. 14627694 2003