rs113994211

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AAGGTACGGCCTTGCCTGCCCTACATC;AAGGTACGGCCTTGCCTGCCCTACATC)	0	common in clinvar
(TGCCCTACATCAAGGTACGGCCTTGCC;TGCCCTACATCAAGGTACGGCCTTGCC)	0	common in clinvar

Make rs113994211(-;-)

Make rs113994211(-;AAGGTACGGCCTTGCCTGCCCTACATC)

Reference

GRCh38 38.1/141

Chromosome

17

Position

3656584

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs113994211
dbSNP (classic)	rs113994211
ClinGen	rs113994211
ebi	rs113994211
HLI	rs113994211
Exac	rs113994211
Gnomad	rs113994211
Varsome	rs113994211
LitVar	rs113994211
Map	rs113994211
PheGenI	rs113994211
Biobank	rs113994211
1000 genomes	rs113994211
hgdp	rs113994211
ensembl	rs113994211
geneview	rs113994211
scholar	rs113994211
google	rs113994211
pharmgkb	rs113994211
gwascentral	rs113994211
openSNP	rs113994211
23andMe	rs113994211
SNPshot	rs113994211
SNPdbe	rs113994211
MSV3d	rs113994211
GWAS Ctlg	rs113994211

Max Magnitude

0

ClinVar
Risk	rs113994211(-;-) Rs113994211(TGCCCTACATCAAGGTACGGCCTTGCC;TGCCCTACATCAAGGTACGGCCTTGCC)
Alt	rs113994211(-;-) Rs113994211(TGCCCTACATCAAGGTACGGCCTTGCC;TGCCCTACATCAAGGTACGGCCTTGCC)
Reference	Rs113994211(AAGGTACGGCCTTGCCTGCCCTACATC;AAGGTACGGCCTTGCCTGCCCTACATC)
Significance	Other
Disease	Nephropathic cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis
Reversed	0
HGVS	NC_000017.10:g.3559878_3559904del27
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020627.4,

[PMID 12442267] Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.