rs137852848

Orientation

minus

Stabilized

minus

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

Make rs137852848(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

4376338

Gene

SUMF1

is a	snp
is	mentioned by
dbSNP	rs137852848
dbSNP (classic)	rs137852848
ClinGen	rs137852848
ebi	rs137852848
HLI	rs137852848
Exac	rs137852848
Gnomad	rs137852848
Varsome	rs137852848
LitVar	rs137852848
Map	rs137852848
PheGenI	rs137852848
Biobank	rs137852848
1000 genomes	rs137852848
hgdp	rs137852848
ensembl	rs137852848
geneview	rs137852848
scholar	rs137852848
google	rs137852848
pharmgkb	rs137852848
gwascentral	rs137852848
openSNP	rs137852848
23andMe	rs137852848
SNPshot	rs137852848
SNPdbe	rs137852848
MSV3d	rs137852848
GWAS Ctlg	rs137852848

Max Magnitude

3

OMIM	607939
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852848(C;C)
Alt	rs137852848(C;C)
Reference	Rs137852848(T;T)
Significance	Pathogenic
Disease	Multiple sulfatase deficiency
Variation	info
Gene	SUMF1
CLNDBN	Multiple sulfatase deficiency
Reversed	1
HGVS	NC_000003.11:g.4418022A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002787.4,