rs2819590

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs2819590(A;A)

Make rs2819590(A;G)

Reference

GRCh38 38.1/142

Chromosome

3

Position

4467058

Gene

SUMF1

is a	snp
is	mentioned by
dbSNP	rs2819590
dbSNP (classic)	rs2819590
ClinGen	rs2819590
ebi	rs2819590
HLI	rs2819590
Exac	rs2819590
Gnomad	rs2819590
Varsome	rs2819590
LitVar	rs2819590
Map	rs2819590
PheGenI	rs2819590
Biobank	rs2819590
1000 genomes	rs2819590
hgdp	rs2819590
ensembl	rs2819590
geneview	rs2819590
scholar	rs2819590
google	rs2819590
pharmgkb	rs2819590
gwascentral	rs2819590
openSNP	rs2819590
23andMe	rs2819590
SNPshot	rs2819590
SNPdbe	rs2819590
MSV3d	rs2819590
GWAS Ctlg	rs2819590

GMAF

0.1428

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs2819590(A;A)
Alt	rs2819590(A;A)
Reference	Rs2819590(G;G)
Significance	Non-pathogenic
Disease	not specified Multiple sulfatase deficiency
Variation	info
Gene	SUMF1
CLNDBN	not specified Multiple sulfatase deficiency
Reversed	1
HGVS	NC_000003.11:g.4508742C>T
CLNSRC
CLNACC	RCV000244602.1, RCV000362882.1,