rs137852849

Orientation

minus

Stabilized

minus

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

Make rs137852849(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

4417132

Gene

SUMF1

is a	snp
is	mentioned by
dbSNP	rs137852849
dbSNP (classic)	rs137852849
ClinGen	rs137852849
ebi	rs137852849
HLI	rs137852849
Exac	rs137852849
Gnomad	rs137852849
Varsome	rs137852849
LitVar	rs137852849
Map	rs137852849
PheGenI	rs137852849
Biobank	rs137852849
1000 genomes	rs137852849
hgdp	rs137852849
ensembl	rs137852849
geneview	rs137852849
scholar	rs137852849
google	rs137852849
pharmgkb	rs137852849
gwascentral	rs137852849
openSNP	rs137852849
23andMe	rs137852849
SNPshot	rs137852849
SNPdbe	rs137852849
MSV3d	rs137852849
GWAS Ctlg	rs137852849

GMAF

0.0

Max Magnitude

3

OMIM	607939
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137852849(T;T)
Alt	rs137852849(T;T)
Reference	Rs137852849(C;C)
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.4458816G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002788.5, RCV000082716.4,