rs199473679

minus

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

Make rs199473679(-;-)

Make rs199473679(-;GTT)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8229946

Gene

CTC1

is a	snp
is	mentioned by
dbSNP	rs199473679
dbSNP (classic)	rs199473679
ClinGen	rs199473679
ebi	rs199473679
HLI	rs199473679
Exac	rs199473679
Gnomad	rs199473679
Varsome	rs199473679
LitVar	rs199473679
Map	rs199473679
PheGenI	rs199473679
Biobank	rs199473679
1000 genomes	rs199473679
hgdp	rs199473679
ensembl	rs199473679
geneview	rs199473679
scholar	rs199473679
google	rs199473679
pharmgkb	rs199473679
gwascentral	rs199473679
openSNP	rs199473679
23andMe	rs199473679
SNPshot	rs199473679
SNPdbe	rs199473679
MSV3d	rs199473679
GWAS Ctlg	rs199473679

Max Magnitude

0

ClinVar
Risk	rs199473679(-;-)
Alt	rs199473679(-;-)
Reference	Rs199473679(GTT;GTT)
Significance	Pathogenic
Disease	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita
Variation	info
Gene	CTC1
CLNDBN	Cerebroretinal microangiopathy with calcifications and cysts 1 Dyskeratosis congenita
Reversed	1
HGVS	NC_000017.10:g.8133264_8133266delAAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033248.6, RCV000475703.1,

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