rs3027247

Orientation

minus

Stabilized

minus

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

Make rs3027247(G;G)

Make rs3027247(G;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8227549

Gene

CTC1

is a	snp
is	mentioned by
dbSNP	rs3027247
dbSNP (classic)	rs3027247
ClinGen	rs3027247
ebi	rs3027247
HLI	rs3027247
Exac	rs3027247
Gnomad	rs3027247
Varsome	rs3027247
LitVar	rs3027247
Map	rs3027247
PheGenI	rs3027247
Biobank	rs3027247
1000 genomes	rs3027247
hgdp	rs3027247
ensembl	rs3027247
geneview	rs3027247
scholar	rs3027247
google	rs3027247
pharmgkb	rs3027247
gwascentral	rs3027247
openSNP	rs3027247
23andMe	rs3027247
SNPshot	rs3027247
SNPdbe	rs3027247
MSV3d	rs3027247
GWAS Ctlg	rs3027247

GMAF

0.3186

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

GWAS snp
PMID	[PMID 22658654]
Trait
Title	Genomic determinants of motor and cognitive outcomes in Parkinson's disease.
Risk Allele
P-val	0.000009
Odds Ratio	1.8900 None

ClinVar
Risk	rs3027247(G;G)
Alt	rs3027247(G;G)
Reference	Rs3027247(T;T)
Significance	Non-pathogenic
Disease	Dyskeratosis Congenita
Variation	info
Gene	CTC1
CLNDBN	Dyskeratosis Congenita, Recessive
Reversed	1
HGVS	NC_000017.10:g.8130867A>C
CLNSRC
CLNACC	RCV000332835.1,