rs199473677

minus

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

Make rs199473677(-;-)

Make rs199473677(-;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8230396

Gene

CTC1

is a	snp
is	mentioned by
dbSNP	rs199473677
dbSNP (classic)	rs199473677
ClinGen	rs199473677
ebi	rs199473677
HLI	rs199473677
Exac	rs199473677
Gnomad	rs199473677
Varsome	rs199473677
LitVar	rs199473677
Map	rs199473677
PheGenI	rs199473677
Biobank	rs199473677
1000 genomes	rs199473677
hgdp	rs199473677
ensembl	rs199473677
geneview	rs199473677
scholar	rs199473677
google	rs199473677
pharmgkb	rs199473677
gwascentral	rs199473677
openSNP	rs199473677
23andMe	rs199473677
SNPshot	rs199473677
SNPdbe	rs199473677
MSV3d	rs199473677
GWAS Ctlg	rs199473677

Max Magnitude

0

ClinVar
Risk	rs199473677(-;-)
Alt	rs199473677(-;-)
Reference	Rs199473677(C;C)
Significance	Pathogenic
Disease	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita not provided
Variation	info
Gene	CTC1
CLNDBN	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita not provided
Reversed	1
HGVS	NC_000017.10:g.8133714delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023991.4, RCV000233824.1, RCV000255650.1,

[PMID 22387016 ] Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.