rs137852851

Orientation

minus

Stabilized

minus

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

Make rs137852851(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

4467244

Gene

SUMF1

is a	snp
is	mentioned by
dbSNP	rs137852851
dbSNP (classic)	rs137852851
ClinGen	rs137852851
ebi	rs137852851
HLI	rs137852851
Exac	rs137852851
Gnomad	rs137852851
Varsome	rs137852851
LitVar	rs137852851
Map	rs137852851
PheGenI	rs137852851
Biobank	rs137852851
1000 genomes	rs137852851
hgdp	rs137852851
ensembl	rs137852851
geneview	rs137852851
scholar	rs137852851
google	rs137852851
pharmgkb	rs137852851
gwascentral	rs137852851
openSNP	rs137852851
23andMe	rs137852851
SNPshot	rs137852851
SNPdbe	rs137852851
MSV3d	rs137852851
GWAS Ctlg	rs137852851

Max Magnitude

3

OMIM	607939
Desc
Variant	0011
Related	also

ClinVar
Risk	rs137852851(G;G)
Alt	rs137852851(G;G)
Reference	Rs137852851(T;T)
Significance	Pathogenic
Disease	Multiple sulfatase deficiency
Variation	info
Gene	SUMF1
CLNDBN	Multiple sulfatase deficiency
Reversed	1
HGVS	NC_000003.11:g.4508928A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002792.3,