rs137852852

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a multiple sulfatase deficiency mutation

Make rs137852852(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

4362236

Gene

SUMF1

is a	snp
is	mentioned by
dbSNP	rs137852852
dbSNP (classic)	rs137852852
ClinGen	rs137852852
ebi	rs137852852
HLI	rs137852852
Exac	rs137852852
Gnomad	rs137852852
Varsome	rs137852852
LitVar	rs137852852
Map	rs137852852
PheGenI	rs137852852
Biobank	rs137852852
1000 genomes	rs137852852
hgdp	rs137852852
ensembl	rs137852852
geneview	rs137852852
scholar	rs137852852
google	rs137852852
pharmgkb	rs137852852
gwascentral	rs137852852
openSNP	rs137852852
23andMe	rs137852852
SNPshot	rs137852852
SNPdbe	rs137852852
MSV3d	rs137852852
GWAS Ctlg	rs137852852

Max Magnitude

3

OMIM	607939
Desc
Variant	0013
Related	also

ClinVar
Risk	rs137852852(T;T)
Alt	rs137852852(T;T)
Reference	Rs137852852(C;C)
Significance	Pathogenic
Disease	Multiple sulfatase deficiency
Variation	info
Gene	SUMF1
CLNDBN	Multiple sulfatase deficiency
Reversed	1
HGVS	NC_000003.11:g.4403920G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002794.4,