rs137852850

Orientation

minus

Stabilized

minus

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

Make rs137852850(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

4449322

Gene

SUMF1

is a	snp
is	mentioned by
dbSNP	rs137852850
dbSNP (classic)	rs137852850
ClinGen	rs137852850
ebi	rs137852850
HLI	rs137852850
Exac	rs137852850
Gnomad	rs137852850
Varsome	rs137852850
LitVar	rs137852850
Map	rs137852850
PheGenI	rs137852850
Biobank	rs137852850
1000 genomes	rs137852850
hgdp	rs137852850
ensembl	rs137852850
geneview	rs137852850
scholar	rs137852850
google	rs137852850
pharmgkb	rs137852850
gwascentral	rs137852850
openSNP	rs137852850
23andMe	rs137852850
SNPshot	rs137852850
SNPdbe	rs137852850
MSV3d	rs137852850
GWAS Ctlg	rs137852850

Max Magnitude

0

aka c.463T>C (p.Ser155Pro or S155P)

OMIM	607939
Desc
Variant	0010
Related	also

ClinVar
Risk	rs137852850(C;C)
Alt	rs137852850(C;C)
Reference	Rs137852850(T;T)
Significance	Other
Disease	Multiple sulfatase deficiency not provided
Variation	info
Gene	SUMF1
CLNDBN	Multiple sulfatase deficiency not provided
Reversed	1
HGVS	NC_000003.11:g.4491006A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002791.3, RCV000082715.4,