rs86312

Orientation

plus

Stabilized

plus

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

Make rs86312(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42544215

Gene

NAGLU

is a	snp
is	mentioned by
dbSNP	rs86312
dbSNP (classic)	rs86312
ClinGen	rs86312
ebi	rs86312
HLI	rs86312
Exac	rs86312
Gnomad	rs86312
Varsome	rs86312
LitVar	rs86312
Map	rs86312
PheGenI	rs86312
Biobank	rs86312
1000 genomes	rs86312
hgdp	rs86312
ensembl	rs86312
geneview	rs86312
scholar	rs86312
google	rs86312
pharmgkb	rs86312
gwascentral	rs86312
openSNP	rs86312
23andMe	rs86312
SNPshot	rs86312
SNPdbe	rs86312
MSV3d	rs86312
GWAS Ctlg	rs86312

GMAF

0.1162

Max Magnitude

0

?	(C;C) (C;G) (G;G)	28

ClinVar
Risk	rs86312(A;A) Rs86312(G;G) rs86312(T;T)
Alt	rs86312(A;A) Rs86312(G;G) rs86312(T;T)
Reference	Rs86312(C;C)
Significance	Non-pathogenic
Disease	not specified Sanfilippo syndrome
Variation	info
Gene	NAGLU
CLNDBN	not specified Sanfilippo syndrome
Reversed	0
HGVS	NC_000017.10:g.40696233C>A; NC_000017.10:g.40696233C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000078456.4, RCV000326969.1, RCV000078457.5, RCV000388513.1,