SALL1, spalt like transcription factor 1, 6299

N. diseases: 156; N. variants: 16
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: C0265246
Disease:
Townes syndrome 		0.710 GeneticVariation BEFREE Sequencing of SALL1, the gene mutated in TBS, in four of the eight patients revealed one with a C --> T transition (resulting in a nonsense mutation R276X) at a previously identified mutational "hot spot." 11478532 2002
dbSNP: rs104894537
rs104894537
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0265246
Disease:
Townes syndrome 		A 0.710 CausalMutation CLINVAR Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 9973281 1999
dbSNP: rs116971887
rs116971887
Entrez Id: 6299;105371253
Gene Symbol: SALL1;LOC105371253
SALL1;LOC105371253
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1015438
rs1015438
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0596887
Disease:
mathematical ability 		G 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1015438
rs1015438
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs116971887
rs116971887
Entrez Id: 6299;105371253
Gene Symbol: SALL1;LOC105371253
SALL1;LOC105371253
CUI: C0201657
Disease:
C-reactive protein measurement 		T 0.700 GeneticVariation GWASCAT Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. 30388399 2018
dbSNP: rs12924434
rs12924434
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1965024
rs1965024
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0201657
Disease:
C-reactive protein measurement 		A 0.700 GeneticVariation GWASCAT Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. 30388399 2018
dbSNP: rs864621971
rs864621971
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C4551481
Disease:
TOWNES-BROCKS SYNDROME 1 		A 0.700 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986 2015
dbSNP: rs1555475319
rs1555475319
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0265246
Disease:
Townes syndrome 		A 0.700 CausalMutation CLINVAR SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. 16088922 2005
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
dbSNP: rs1555475319
rs1555475319
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0265246
Disease:
Townes syndrome 		A 0.700 CausalMutation CLINVAR Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 9973281 1999
dbSNP: rs104894535
rs104894535
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C4551481
Disease:
TOWNES-BROCKS SYNDROME 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs104894535
rs104894535
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C4551481
Disease:
TOWNES-BROCKS SYNDROME 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894538
rs104894538
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C1862683
Disease:
Townes-Brocks-Branchiootorenal-Like Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894538
rs104894538
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C4551481
Disease:
TOWNES-BROCKS SYNDROME 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894538
rs104894538
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0265246
Disease:
Townes syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1064793257
rs1064793257
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0265246
Disease:
Townes syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1085307143
rs1085307143
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C4551481
Disease:
TOWNES-BROCKS SYNDROME 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs137853084
rs137853084
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C4551481
Disease:
TOWNES-BROCKS SYNDROME 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555475106
rs1555475106
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0265246
Disease:
Townes syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555475120
rs1555475120
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0265246
Disease:
Townes syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555475275
rs1555475275
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0265246
Disease:
Townes syndrome 		AG 0.700 CausalMutation CLINVAR
dbSNP: rs1555475334
rs1555475334
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0265246
Disease:
Townes syndrome 		T 0.700 CausalMutation CLINVAR