rs199473681

minus

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

Make rs199473681(AT;AT)

Make rs199473681(AT;TC)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8228591

Gene

CTC1

is a	snp
is	mentioned by
dbSNP	rs199473681
dbSNP (classic)	rs199473681
ClinGen	rs199473681
ebi	rs199473681
HLI	rs199473681
Exac	rs199473681
Gnomad	rs199473681
Varsome	rs199473681
LitVar	rs199473681
Map	rs199473681
PheGenI	rs199473681
Biobank	rs199473681
1000 genomes	rs199473681
hgdp	rs199473681
ensembl	rs199473681
geneview	rs199473681
scholar	rs199473681
google	rs199473681
pharmgkb	rs199473681
gwascentral	rs199473681
openSNP	rs199473681
23andMe	rs199473681
SNPshot	rs199473681
SNPdbe	rs199473681
MSV3d	rs199473681
GWAS Ctlg	rs199473681

Max Magnitude

0

ClinVar
Risk	rs199473681(AT;AT)
Alt	rs199473681(AT;AT)
Reference	Rs199473681(TC;TC)
Significance	Pathogenic
Disease	Cerebroretinal microangiopathy with calcifications and cysts
Variation	info
Gene	CTC1
CLNDBN	Cerebroretinal microangiopathy with calcifications and cysts
Reversed	1
HGVS	NC_000017.10:g.8131909_8131910delGAinsAT
CLNSRC
CLNACC

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