rs869320709

Orientation

plus

Stabilized

plus

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

Make rs869320709(C;T)

Make rs869320709(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

42178328

Gene

GUCA1A

is a	snp
is	mentioned by
dbSNP	rs869320709
dbSNP (classic)	rs869320709
ClinGen	rs869320709
ebi	rs869320709
HLI	rs869320709
Exac	rs869320709
Gnomad	rs869320709
Varsome	rs869320709
LitVar	rs869320709
Map	rs869320709
PheGenI	rs869320709
Biobank	rs869320709
1000 genomes	rs869320709
hgdp	rs869320709
ensembl	rs869320709
geneview	rs869320709
scholar	rs869320709
google	rs869320709
pharmgkb	rs869320709
gwascentral	rs869320709
openSNP	rs869320709
23andMe	rs869320709
SNPshot	rs869320709
SNPdbe	rs869320709
MSV3d	rs869320709
GWAS Ctlg	rs869320709

Max Magnitude

0

ClinVar
Risk	rs869320709(T;T)
Alt	rs869320709(T;T)
Reference	Rs869320709(C;C)
Significance	Pathogenic
Disease	Cone dystrophy 3
Variation	info
Gene	GUCA1A
CLNDBN	Cone dystrophy 3
Reversed	0
HGVS	NC_000006.11:g.42146066C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210865.1,