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rs4614723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 0 common in complete genomics
Make rs4614723(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position51137264
GeneLOC105371253, SALL1
is asnp
is mentioned by
dbSNPrs4614723
dbSNP (classic)rs4614723
ClinGenrs4614723
ebirs4614723
HLIrs4614723
Exacrs4614723
Gnomadrs4614723
Varsomers4614723
LitVarrs4614723
Maprs4614723
PheGenIrs4614723
Biobankrs4614723
1000 genomesrs4614723
hgdprs4614723
ensemblrs4614723
geneviewrs4614723
scholarrs4614723
googlers4614723
pharmgkbrs4614723
gwascentralrs4614723
openSNPrs4614723
23andMers4614723
SNPshotrs4614723
SNPdbers4614723
MSV3drs4614723
GWAS Ctlgrs4614723
GMAF0.02204
Max Magnitude0
? (C;C) (C;T) (T;T) 28



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



ClinVar
Risk Rs4614723(T;T)
Alt Rs4614723(T;T)
Reference Rs4614723(C;C)
Significance Non-pathogenic
Disease not specified Townes syndrome
Variation info
Gene SALL1
CLNDBN not specified Townes syndrome
Reversed 0
HGVS NC_000016.9:g.51171175C>T
CLNSRC
CLNACC RCV000242039.1, RCV000349793.1,