rs104894537

Orientation

minus

Stabilized

minus

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

Make rs104894537(C;T)

Make rs104894537(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

51141396

Gene

SALL1

is a	snp
is	mentioned by
dbSNP	rs104894537
dbSNP (classic)	rs104894537
ClinGen	rs104894537
ebi	rs104894537
HLI	rs104894537
Exac	rs104894537
Gnomad	rs104894537
Varsome	rs104894537
LitVar	rs104894537
Map	rs104894537
PheGenI	rs104894537
Biobank	rs104894537
1000 genomes	rs104894537
hgdp	rs104894537
ensembl	rs104894537
geneview	rs104894537
scholar	rs104894537
google	rs104894537
pharmgkb	rs104894537
gwascentral	rs104894537
openSNP	rs104894537
23andMe	rs104894537
SNPshot	rs104894537
SNPdbe	rs104894537
MSV3d	rs104894537
GWAS Ctlg	rs104894537

Max Magnitude

0

OMIM	602218
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894537(A;A) rs104894537(T;T)
Alt	rs104894537(A;A) rs104894537(T;T)
Reference	Rs104894537(C;C)
Significance	Pathogenic
Disease	Townes syndrome
Variation	info
Gene	SALL1
CLNDBN	Townes syndrome
Reversed	1
HGVS	NC_000016.9:g.51175307G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007853.4,