rs137852844

Orientation

minus

Stabilized

minus

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

Make rs137852844(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

4362193

Gene

SUMF1

is a	snp
is	mentioned by
dbSNP	rs137852844
dbSNP (classic)	rs137852844
ClinGen	rs137852844
ebi	rs137852844
HLI	rs137852844
Exac	rs137852844
Gnomad	rs137852844
Varsome	rs137852844
LitVar	rs137852844
Map	rs137852844
PheGenI	rs137852844
Biobank	rs137852844
1000 genomes	rs137852844
hgdp	rs137852844
ensembl	rs137852844
geneview	rs137852844
scholar	rs137852844
google	rs137852844
pharmgkb	rs137852844
gwascentral	rs137852844
openSNP	rs137852844
23andMe	rs137852844
SNPshot	rs137852844
SNPdbe	rs137852844
MSV3d	rs137852844
GWAS Ctlg	rs137852844

Max Magnitude

3

OMIM	607939
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852844(A;A) rs137852844(T;T)
Alt	rs137852844(A;A) rs137852844(T;T)
Reference	Rs137852844(C;C)
Significance	Pathogenic
Disease	Multiple sulfatase deficiency
Variation	info
Gene	SUMF1
CLNDBN	Multiple sulfatase deficiency
Reversed	1
HGVS	NC_000003.11:g.4403877G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002783.4,