rs4614723

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(T;T)	0	common in complete genomics

Make rs4614723(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

51137264

Gene	LOC105371253, SALL1

is a	snp
is	mentioned by
dbSNP	rs4614723
dbSNP (classic)	rs4614723
ClinGen	rs4614723
ebi	rs4614723
HLI	rs4614723
Exac	rs4614723
Gnomad	rs4614723
Varsome	rs4614723
LitVar	rs4614723
Map	rs4614723
PheGenI	rs4614723
Biobank	rs4614723
1000 genomes	rs4614723
hgdp	rs4614723
ensembl	rs4614723
geneview	rs4614723
scholar	rs4614723
google	rs4614723
pharmgkb	rs4614723
gwascentral	rs4614723
openSNP	rs4614723
23andMe	rs4614723
SNPshot	rs4614723
SNPdbe	rs4614723
MSV3d	rs4614723
GWAS Ctlg	rs4614723

GMAF

0.02204

Max Magnitude

0

?	(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,