rs397514660

Orientation

minus

Stabilized

minus

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

Make rs397514660(C;T)

Make rs397514660(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8236276

Gene

CTC1

is a	snp
is	mentioned by
dbSNP	rs397514660
dbSNP (classic)	rs397514660
ClinGen	rs397514660
ebi	rs397514660
HLI	rs397514660
Exac	rs397514660
Gnomad	rs397514660
Varsome	rs397514660
LitVar	rs397514660
Map	rs397514660
PheGenI	rs397514660
Biobank	rs397514660
1000 genomes	rs397514660
hgdp	rs397514660
ensembl	rs397514660
geneview	rs397514660
scholar	rs397514660
google	rs397514660
pharmgkb	rs397514660
gwascentral	rs397514660
openSNP	rs397514660
23andMe	rs397514660
SNPshot	rs397514660
SNPdbe	rs397514660
MSV3d	rs397514660
GWAS Ctlg	rs397514660

Max Magnitude

0

ClinVar
Risk	rs397514660(T;T)
Alt	rs397514660(T;T)
Reference	Rs397514660(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.8139594G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033249.5,