rs775324176

Orientation

plus

Stabilized

plus

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

Make rs775324176(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

4449258

Gene

SUMF1

is a	snp
is	mentioned by
dbSNP	rs775324176
dbSNP (classic)	rs775324176
ClinGen	rs775324176
ebi	rs775324176
HLI	rs775324176
Exac	rs775324176
Gnomad	rs775324176
Varsome	rs775324176
LitVar	rs775324176
Map	rs775324176
PheGenI	rs775324176
Biobank	rs775324176
1000 genomes	rs775324176
hgdp	rs775324176
ensembl	rs775324176
geneview	rs775324176
scholar	rs775324176
google	rs775324176
pharmgkb	rs775324176
gwascentral	rs775324176
openSNP	rs775324176
23andMe	rs775324176
SNPshot	rs775324176
SNPdbe	rs775324176
MSV3d	rs775324176
GWAS Ctlg	rs775324176

Max Magnitude

3

ClinVar
Risk	rs775324176(-;-)
Alt	rs775324176(-;-)
Reference	Rs775324176(TTAC;TTAC)
Significance	Pathogenic
Disease	Multiple sulfatase deficiency
Variation	info
Gene	SUMF1
CLNDBN	Multiple sulfatase deficiency
Reversed	0
HGVS	NC_000003.11:g.4490942_4490945delTTAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002782.4,