rs199473675

minus

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

Make rs199473675(-;-)

Make rs199473675(-;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8236077

Gene

CTC1

is a	snp
is	mentioned by
dbSNP	rs199473675
dbSNP (classic)	rs199473675
ClinGen	rs199473675
ebi	rs199473675
HLI	rs199473675
Exac	rs199473675
Gnomad	rs199473675
Varsome	rs199473675
LitVar	rs199473675
Map	rs199473675
PheGenI	rs199473675
Biobank	rs199473675
1000 genomes	rs199473675
hgdp	rs199473675
ensembl	rs199473675
geneview	rs199473675
scholar	rs199473675
google	rs199473675
pharmgkb	rs199473675
gwascentral	rs199473675
openSNP	rs199473675
23andMe	rs199473675
SNPshot	rs199473675
SNPdbe	rs199473675
MSV3d	rs199473675
GWAS Ctlg	rs199473675

Max Magnitude

0

ClinVar
Risk	rs199473675(-;-)
Alt	rs199473675(-;-)
Reference	Rs199473675(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.8139395delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023996.4,

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