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rs4614723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs4614723(C;C)
Make rs4614723(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position51137264
GeneSALL1
is asnp
is mentioned by
dbSNPrs4614723
ebirs4614723
HLIrs4614723
Exacrs4614723
Varsomers4614723
Maprs4614723
PheGenIrs4614723
hapmaprs4614723
1000 genomesrs4614723
hgdprs4614723
ensemblrs4614723
gopubmedrs4614723
geneviewrs4614723
scholarrs4614723
googlers4614723
pharmgkbrs4614723
gwascentralrs4614723
openSNPrs4614723
23andMers4614723
23andMe allrs4614723
SNP Nexus

SNPshotrs4614723
SNPdbers4614723
MSV3drs4614723
GWAS Ctlgrs4614723
GMAF0.02204
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene SALL1
allele T
frequency
sift TOLERATED
HuRef 1103645472652
Disease Association Defects in SALL1 may cause a phenotype overlapping with TBS, similar to bronchio-oto-renal syndrome (BOR) (MIM:113650). BOR is an autosomal dominant disorder, manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation.



[PMID 18280297] Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature.


GET Evidence
SALL1-V1275I
aa_change Val1275Ile
aa_change_short V1275I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.988381
summary