rs104894535

Orientation

minus

Stabilized

minus

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

Make rs104894535(C;G)

Make rs104894535(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

51141107

Gene

SALL1

is a	snp
is	mentioned by
dbSNP	rs104894535
dbSNP (classic)	rs104894535
ClinGen	rs104894535
ebi	rs104894535
HLI	rs104894535
Exac	rs104894535
Gnomad	rs104894535
Varsome	rs104894535
LitVar	rs104894535
Map	rs104894535
PheGenI	rs104894535
Biobank	rs104894535
1000 genomes	rs104894535
hgdp	rs104894535
ensembl	rs104894535
geneview	rs104894535
scholar	rs104894535
google	rs104894535
pharmgkb	rs104894535
gwascentral	rs104894535
openSNP	rs104894535
23andMe	rs104894535
SNPshot	rs104894535
SNPdbe	rs104894535
MSV3d	rs104894535
GWAS Ctlg	rs104894535

Max Magnitude

0

OMIM	602218
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894535(A;A) rs104894535(G;G)
Alt	rs104894535(A;A) rs104894535(G;G)
Reference	Rs104894535(C;C)
Significance	Pathogenic
Disease	Townes syndrome
Variation	info
Gene	SALL1
CLNDBN	Townes syndrome
Reversed	1
HGVS	NC_000016.9:g.51175018G>C; NC_000016.9:g.51175018G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007854.2, RCV000007852.2,