rs199473673

minus

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

Make rs199473673(C;T)

Make rs199473673(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8237487

Gene

CTC1

is a	snp
is	mentioned by
dbSNP	rs199473673
dbSNP (classic)	rs199473673
ClinGen	rs199473673
ebi	rs199473673
HLI	rs199473673
Exac	rs199473673
Gnomad	rs199473673
Varsome	rs199473673
LitVar	rs199473673
Map	rs199473673
PheGenI	rs199473673
Biobank	rs199473673
1000 genomes	rs199473673
hgdp	rs199473673
ensembl	rs199473673
geneview	rs199473673
scholar	rs199473673
google	rs199473673
pharmgkb	rs199473673
gwascentral	rs199473673
openSNP	rs199473673
23andMe	rs199473673
SNPshot	rs199473673
SNPdbe	rs199473673
MSV3d	rs199473673
GWAS Ctlg	rs199473673

Max Magnitude

0

ClinVar
Risk	rs199473673(T;T)
Alt	rs199473673(T;T)
Reference	Rs199473673(C;C)
Significance	Pathogenic
Disease	Cerebroretinal microangiopathy with calcifications and cysts 1
Variation	info
Gene	CTC1
CLNDBN	Cerebroretinal microangiopathy with calcifications and cysts 1
Reversed	1
HGVS	NC_000017.10:g.8140805G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023995.6,

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