rs137852855

Orientation

minus

Stabilized

minus

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

Make rs137852855(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

4467245

Gene

SUMF1

is a	snp
is	mentioned by
dbSNP	rs137852855
dbSNP (classic)	rs137852855
ClinGen	rs137852855
ebi	rs137852855
HLI	rs137852855
Exac	rs137852855
Gnomad	rs137852855
Varsome	rs137852855
LitVar	rs137852855
Map	rs137852855
PheGenI	rs137852855
Biobank	rs137852855
1000 genomes	rs137852855
hgdp	rs137852855
ensembl	rs137852855
geneview	rs137852855
scholar	rs137852855
google	rs137852855
pharmgkb	rs137852855
gwascentral	rs137852855
openSNP	rs137852855
23andMe	rs137852855
SNPshot	rs137852855
SNPdbe	rs137852855
MSV3d	rs137852855
GWAS Ctlg	rs137852855

Max Magnitude

3

OMIM	607939
Desc
Variant	0017
Related	also

ClinVar
Risk	rs137852855(G;G)
Alt	rs137852855(G;G)
Reference	Rs137852855(A;A)
Significance	Pathogenic
Disease	Multiple sulfatase deficiency
Variation	info
Gene	SUMF1
CLNDBN	Multiple sulfatase deficiency
Reversed	1
HGVS	NC_000003.11:g.4508929T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002798.3,