rs864621971

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs864621971(C;T)

Make rs864621971(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

51141273

Gene

SALL1

is a	snp
is	mentioned by
dbSNP	rs864621971
dbSNP (classic)	rs864621971
ClinGen	rs864621971
ebi	rs864621971
HLI	rs864621971
Exac	rs864621971
Gnomad	rs864621971
Varsome	rs864621971
LitVar	rs864621971
Map	rs864621971
PheGenI	rs864621971
Biobank	rs864621971
1000 genomes	rs864621971
hgdp	rs864621971
ensembl	rs864621971
geneview	rs864621971
scholar	rs864621971
google	rs864621971
pharmgkb	rs864621971
gwascentral	rs864621971
openSNP	rs864621971
23andMe	rs864621971
SNPshot	rs864621971
SNPdbe	rs864621971
MSV3d	rs864621971
GWAS Ctlg	rs864621971

Max Magnitude

0

ClinVar
Risk	rs864621971(T;T)
Alt	rs864621971(T;T)
Reference	Rs864621971(C;C)
Significance	Pathogenic
Disease	Townes syndrome
Variation	info
Gene	SALL1
CLNDBN	Townes syndrome
Reversed	1
HGVS	NC_000016.9:g.51175184G>A
CLNSRC
CLNACC	RCV000205374.1,