rs217116

Orientation

plus

Stabilized

plus

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

Make rs217116(A;G)

Make rs217116(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

88300493

Gene

CTSC

is a	snp
is	mentioned by
dbSNP	rs217116
dbSNP (classic)	rs217116
ClinGen	rs217116
ebi	rs217116
HLI	rs217116
Exac	rs217116
Gnomad	rs217116
Varsome	rs217116
LitVar	rs217116
Map	rs217116
PheGenI	rs217116
Biobank	rs217116
1000 genomes	rs217116
hgdp	rs217116
ensembl	rs217116
geneview	rs217116
scholar	rs217116
google	rs217116
pharmgkb	rs217116
gwascentral	rs217116
openSNP	rs217116
23andMe	rs217116
SNPshot	rs217116
SNPdbe	rs217116
MSV3d	rs217116
GWAS Ctlg	rs217116

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 26205983] One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes

ClinVar
Risk	rs217116(C;C) rs217116(G;G) rs217116(T;T)
Alt	rs217116(C;C) rs217116(G;G) rs217116(T;T)
Reference	Rs217116(A;A)
Significance	Non-pathogenic
Disease	not specified
Variation	info
Gene	CTSC
CLNDBN	not specified
Reversed	0
HGVS	NC_000011.9:g.88033661A>G
CLNSRC
CLNACC	RCV000249266.1,