rs1057517330

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs1057517330(C;C)

Make rs1057517330(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

3660367

Gene

CTNS

is a	snp
is	mentioned by
dbSNP	rs1057517330
dbSNP (classic)	rs1057517330
ClinGen	rs1057517330
ebi	rs1057517330
HLI	rs1057517330
Exac	rs1057517330
Gnomad	rs1057517330
Varsome	rs1057517330
LitVar	rs1057517330
Map	rs1057517330
PheGenI	rs1057517330
Biobank	rs1057517330
1000 genomes	rs1057517330
hgdp	rs1057517330
ensembl	rs1057517330
geneview	rs1057517330
scholar	rs1057517330
google	rs1057517330
pharmgkb	rs1057517330
gwascentral	rs1057517330
openSNP	rs1057517330
23andMe	rs1057517330
SNPshot	rs1057517330
SNPdbe	rs1057517330
MSV3d	rs1057517330
GWAS Ctlg	rs1057517330

Max Magnitude

0

ClinVar
Risk	rs1057517330(C;C)
Alt	rs1057517330(C;C)
Reference	Rs1057517330(T;T)
Significance	Probable-Pathogenic
Disease	Nephropathic cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis
Reversed	0
HGVS	NC_000017.10:g.3563661T>C
CLNSRC
CLNACC	RCV000411915.1,