rs199473674

minus

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

Make rs199473674(-;-)

Make rs199473674(-;AAAG)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8237440

Gene

CTC1

is a	snp
is	mentioned by
dbSNP	rs199473674
dbSNP (classic)	rs199473674
ClinGen	rs199473674
ebi	rs199473674
HLI	rs199473674
Exac	rs199473674
Gnomad	rs199473674
Varsome	rs199473674
LitVar	rs199473674
Map	rs199473674
PheGenI	rs199473674
Biobank	rs199473674
1000 genomes	rs199473674
hgdp	rs199473674
ensembl	rs199473674
geneview	rs199473674
scholar	rs199473674
google	rs199473674
pharmgkb	rs199473674
gwascentral	rs199473674
openSNP	rs199473674
23andMe	rs199473674
SNPshot	rs199473674
SNPdbe	rs199473674
MSV3d	rs199473674
GWAS Ctlg	rs199473674

Max Magnitude

0

ClinVar
Risk	rs199473674(-;-)
Alt	rs199473674(-;-)
Reference	Rs199473674(AAAG;AAAG)
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.8140758_8140761delCTTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023986.5, RCV000456770.1, RCV000485968.1,

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