rs137852854

Orientation

minus

Stabilized

minus

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

Make rs137852854(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

4418082

Gene

SUMF1

is a	snp
is	mentioned by
dbSNP	rs137852854
dbSNP (classic)	rs137852854
ClinGen	rs137852854
ebi	rs137852854
HLI	rs137852854
Exac	rs137852854
Gnomad	rs137852854
Varsome	rs137852854
LitVar	rs137852854
Map	rs137852854
PheGenI	rs137852854
Biobank	rs137852854
1000 genomes	rs137852854
hgdp	rs137852854
ensembl	rs137852854
geneview	rs137852854
scholar	rs137852854
google	rs137852854
pharmgkb	rs137852854
gwascentral	rs137852854
openSNP	rs137852854
23andMe	rs137852854
SNPshot	rs137852854
SNPdbe	rs137852854
MSV3d	rs137852854
GWAS Ctlg	rs137852854

Max Magnitude

3

OMIM	607939
Desc
Variant	0015
Related	also

ClinVar
Risk	rs137852854(A;A)
Alt	rs137852854(A;A)
Reference	Rs137852854(G;G)
Significance	Pathogenic
Disease	Multiple sulfatase deficiency
Variation	info
Gene	SUMF1
CLNDBN	Multiple sulfatase deficiency
Reversed	1
HGVS	NC_000003.11:g.4459766C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002796.3,