Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864621971
rs864621971
SALL1
A 0.700 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015
dbSNP: rs104894537
rs104894537
SALL1
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
dbSNP: rs104894535
rs104894535
SALL1
C 0.700 CausalMutation CLINVAR

dbSNP: rs104894535
rs104894535
SALL1
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894538
rs104894538
SALL1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1085307143
rs1085307143
SALL1
G 0.700 CausalMutation CLINVAR

dbSNP: rs137853084
rs137853084
SALL1
T 0.700 CausalMutation CLINVAR