rs104894538

Orientation

minus

Stabilized

minus

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

Make rs104894538(C;T)

Make rs104894538(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

51141255

Gene

SALL1

is a	snp
is	mentioned by
dbSNP	rs104894538
dbSNP (classic)	rs104894538
ClinGen	rs104894538
ebi	rs104894538
HLI	rs104894538
Exac	rs104894538
Gnomad	rs104894538
Varsome	rs104894538
LitVar	rs104894538
Map	rs104894538
PheGenI	rs104894538
Biobank	rs104894538
1000 genomes	rs104894538
hgdp	rs104894538
ensembl	rs104894538
geneview	rs104894538
scholar	rs104894538
google	rs104894538
pharmgkb	rs104894538
gwascentral	rs104894538
openSNP	rs104894538
23andMe	rs104894538
SNPshot	rs104894538
SNPdbe	rs104894538
MSV3d	rs104894538
GWAS Ctlg	rs104894538

Max Magnitude

0

OMIM	602218
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894538(T;T)
Alt	rs104894538(T;T)
Reference	Rs104894538(C;C)
Significance	Pathogenic
Disease	Townes-Brocks-branchiootorenal-like syndrome
Variation	info
Gene	SALL1
CLNDBN	Townes-Brocks-branchiootorenal-like syndrome
Reversed	1
HGVS	NC_000016.9:g.51175166G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007859.2,