rs764168489

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	3	Carrier of a cystinosis mutation
(T;T)	0	common in clinvar

Make rs764168489(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

17

Position

3656569

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs764168489
dbSNP (classic)	rs764168489
ClinGen	rs764168489
ebi	rs764168489
HLI	rs764168489
Exac	rs764168489
Gnomad	rs764168489
Varsome	rs764168489
LitVar	rs764168489
Map	rs764168489
PheGenI	rs764168489
Biobank	rs764168489
1000 genomes	rs764168489
hgdp	rs764168489
ensembl	rs764168489
geneview	rs764168489
scholar	rs764168489
google	rs764168489
pharmgkb	rs764168489
gwascentral	rs764168489
openSNP	rs764168489
23andMe	rs764168489
SNPshot	rs764168489
SNPdbe	rs764168489
MSV3d	rs764168489
GWAS Ctlg	rs764168489

Max Magnitude

3

ClinVar
Risk	rs764168489(C;C)
Alt	rs764168489(C;C)
Reference	Rs764168489(T;T)
Significance	Pathogenic
Disease	Cystinosis
Variation	info
Gene	CTNS
CLNDBN	Cystinosis
Reversed	0
HGVS	NC_000017.10:g.3559863T>C
CLNSRC
CLNACC	RCV000258035.1,