rs137852845

Orientation

minus

Stabilized

minus

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

Make rs137852845(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

4376365

Gene

SUMF1

is a	snp
is	mentioned by
dbSNP	rs137852845
dbSNP (classic)	rs137852845
ClinGen	rs137852845
ebi	rs137852845
HLI	rs137852845
Exac	rs137852845
Gnomad	rs137852845
Varsome	rs137852845
LitVar	rs137852845
Map	rs137852845
PheGenI	rs137852845
Biobank	rs137852845
1000 genomes	rs137852845
hgdp	rs137852845
ensembl	rs137852845
geneview	rs137852845
scholar	rs137852845
google	rs137852845
pharmgkb	rs137852845
gwascentral	rs137852845
openSNP	rs137852845
23andMe	rs137852845
SNPshot	rs137852845
SNPdbe	rs137852845
MSV3d	rs137852845
GWAS Ctlg	rs137852845

Max Magnitude

3

OMIM	607939
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852845(T;T)
Alt	rs137852845(T;T)
Reference	Rs137852845(C;C)
Significance	Pathogenic
Disease	Multiple sulfatase deficiency
Variation	info
Gene	SUMF1
CLNDBN	Multiple sulfatase deficiency
Reversed	1
HGVS	NC_000003.11:g.4418049G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002784.4,