rs760256854

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;ACG)	3	Carrier of a cystinosis mutation
(ACG;ACG)	0	common in clinvar
(I;I)	0	common genotype

Make rs760256854(-;-)

Reference

GRCh38.p7 38.3/149

Chromosome

17

Position

3656725

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs760256854
dbSNP (classic)	rs760256854
ClinGen	rs760256854
ebi	rs760256854
HLI	rs760256854
Exac	rs760256854
Gnomad	rs760256854
Varsome	rs760256854
LitVar	rs760256854
Map	rs760256854
PheGenI	rs760256854
Biobank	rs760256854
1000 genomes	rs760256854
hgdp	rs760256854
ensembl	rs760256854
geneview	rs760256854
scholar	rs760256854
google	rs760256854
pharmgkb	rs760256854
gwascentral	rs760256854
openSNP	rs760256854
23andMe	rs760256854
SNPshot	rs760256854
SNPdbe	rs760256854
MSV3d	rs760256854
GWAS Ctlg	rs760256854

Merged from

Rs786204423

Max Magnitude

3

ClinVar
Risk	rs760256854(-;-)
Alt	rs760256854(-;-)
Reference	Rs760256854(ACG;ACG)
Significance	Pathogenic
Disease	Nephropathic cystinosis Cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis Cystinosis
Reversed	0
HGVS	NC_000017.10:g.3560022_3560024delACG
CLNSRC
CLNACC	RCV000169014.1, RCV000258027.1,