rs1057517363

Orientation

minus

Stabilized

minus

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

Make rs1057517363(C;C)

Make rs1057517363(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

4417229

Gene

SUMF1

is a	snp
is	mentioned by
dbSNP	rs1057517363
dbSNP (classic)	rs1057517363
ClinGen	rs1057517363
ebi	rs1057517363
HLI	rs1057517363
Exac	rs1057517363
Gnomad	rs1057517363
Varsome	rs1057517363
LitVar	rs1057517363
Map	rs1057517363
PheGenI	rs1057517363
Biobank	rs1057517363
1000 genomes	rs1057517363
hgdp	rs1057517363
ensembl	rs1057517363
geneview	rs1057517363
scholar	rs1057517363
google	rs1057517363
pharmgkb	rs1057517363
gwascentral	rs1057517363
openSNP	rs1057517363
23andMe	rs1057517363
SNPshot	rs1057517363
SNPdbe	rs1057517363
MSV3d	rs1057517363
GWAS Ctlg	rs1057517363

Max Magnitude

0

ClinVar
Risk	rs1057517363(C;C)
Alt	rs1057517363(C;C)
Reference	Rs1057517363(G;G)
Significance	Probable-Pathogenic
Disease	Multiple sulfatase deficiency
Variation	info
Gene	SUMF1
CLNDBN	Multiple sulfatase deficiency
Reversed	1
HGVS	NC_000003.11:g.4458913C>G
CLNSRC
CLNACC	RCV000412333.1,