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rs13336129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs13336129(C;C)
Make rs13336129(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position51141747
GeneSALL1
is asnp
is mentioned by
dbSNPrs13336129
dbSNP (old)rs13336129
ClinGenrs13336129
ebirs13336129
HLIrs13336129
Exacrs13336129
Varsomers13336129
Maprs13336129
PheGenIrs13336129
Biobankrs13336129
1000 genomesrs13336129
hgdprs13336129
ensemblrs13336129
gopubmedrs13336129
geneviewrs13336129
scholarrs13336129
googlers13336129
pharmgkbrs13336129
gwascentralrs13336129
openSNPrs13336129
23andMers13336129
23andMe allrs13336129
SNP Nexus

SNPshotrs13336129
SNPdbers13336129
MSV3drs13336129
GWAS Ctlgrs13336129
GMAF0.05739
Max Magnitude0
Venter snp
Source plos
Gene SALL1
allele C
frequency
sift TOLERATED
HuRef 1103645472653
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.



ClinVar
Risk rs13336129(C;C)
Alt rs13336129(C;C)
Reference Rs13336129(T;T)
Significance Non-pathogenic
Disease not specified Townes syndrome
Variation info
Gene SALL1
CLNDBN not specified Townes syndrome
Reversed 0
HGVS NC_000016.9:g.51175658T>C
CLNSRC
CLNACC RCV000243488.1, RCV000334141.1,