rs202138550

Orientation

plus

Stabilized

plus

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

Make rs202138550(A;A)

Make rs202138550(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8229943

Gene

CTC1

is a	snp
is	mentioned by
dbSNP	rs202138550
dbSNP (classic)	rs202138550
ClinGen	rs202138550
ebi	rs202138550
HLI	rs202138550
Exac	rs202138550
Gnomad	rs202138550
Varsome	rs202138550
LitVar	rs202138550
Map	rs202138550
PheGenI	rs202138550
Biobank	rs202138550
1000 genomes	rs202138550
hgdp	rs202138550
ensembl	rs202138550
geneview	rs202138550
scholar	rs202138550
google	rs202138550
pharmgkb	rs202138550
gwascentral	rs202138550
openSNP	rs202138550
23andMe	rs202138550
SNPshot	rs202138550
SNPdbe	rs202138550
MSV3d	rs202138550
GWAS Ctlg	rs202138550

GMAF

0.0

Max Magnitude

0

ClinVar
Risk	rs202138550(A;A)
Alt	rs202138550(A;A)
Reference	Rs202138550(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	0
HGVS	NC_000017.10:g.8133261G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023987.4,