rs387907080

Orientation

minus

Stabilized

minus

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

Make rs387907080(A;A)

Make rs387907080(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8237392

Gene

CTC1

is a	snp
is	mentioned by
dbSNP	rs387907080
dbSNP (classic)	rs387907080
ClinGen	rs387907080
ebi	rs387907080
HLI	rs387907080
Exac	rs387907080
Gnomad	rs387907080
Varsome	rs387907080
LitVar	rs387907080
Map	rs387907080
PheGenI	rs387907080
Biobank	rs387907080
1000 genomes	rs387907080
hgdp	rs387907080
ensembl	rs387907080
geneview	rs387907080
scholar	rs387907080
google	rs387907080
pharmgkb	rs387907080
gwascentral	rs387907080
openSNP	rs387907080
23andMe	rs387907080
SNPshot	rs387907080
SNPdbe	rs387907080
MSV3d	rs387907080
GWAS Ctlg	rs387907080

Max Magnitude

0

ClinVar
Risk	rs387907080(A;A)
Alt	rs387907080(A;A)
Reference	Rs387907080(G;G)
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.8140710C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023989.4,