rs7503034

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	0.1	Benign (harmless) variant
(T;T)	0.1	Benign (harmless) variant

Reference

GRCh38 38.1/141

Chromosome

17

Position

80210594

Gene

SGSH

is a	snp
is	mentioned by
dbSNP	rs7503034
dbSNP (classic)	rs7503034
ClinGen	rs7503034
ebi	rs7503034
HLI	rs7503034
Exac	rs7503034
Gnomad	rs7503034
Varsome	rs7503034
LitVar	rs7503034
Map	rs7503034
PheGenI	rs7503034
Biobank	rs7503034
1000 genomes	rs7503034
hgdp	rs7503034
ensembl	rs7503034
geneview	rs7503034
scholar	rs7503034
google	rs7503034
pharmgkb	rs7503034
gwascentral	rs7503034
openSNP	rs7503034
23andMe	rs7503034
SNPshot	rs7503034
SNPdbe	rs7503034
MSV3d	rs7503034
GWAS Ctlg	rs7503034

GMAF

0.3264

Max Magnitude

0.1

Benign variant.

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	Rs7503034(T;T)
Alt	Rs7503034(T;T)
Reference	Rs7503034(C;C)
Significance	Non-pathogenic
Disease	not specified Sanfilippo syndrome
Variation	info
Gene	SGSH
CLNDBN	not specified Sanfilippo syndrome
Reversed	0
HGVS	NC_000017.10:g.78184393C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000078352.5, RCV000289567.1,