rs104893968

Orientation

plus

Stabilized

plus

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

Make rs104893968(C;T)

Make rs104893968(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

42173762

Gene

GUCA1A

is a	snp
is	mentioned by
dbSNP	rs104893968
dbSNP (classic)	rs104893968
ClinGen	rs104893968
ebi	rs104893968
HLI	rs104893968
Exac	rs104893968
Gnomad	rs104893968
Varsome	rs104893968
LitVar	rs104893968
Map	rs104893968
PheGenI	rs104893968
Biobank	rs104893968
1000 genomes	rs104893968
hgdp	rs104893968
ensembl	rs104893968
geneview	rs104893968
scholar	rs104893968
google	rs104893968
pharmgkb	rs104893968
gwascentral	rs104893968
openSNP	rs104893968
23andMe	rs104893968
SNPshot	rs104893968
SNPdbe	rs104893968
MSV3d	rs104893968
GWAS Ctlg	rs104893968

GMAF

0.0

Max Magnitude

0

OMIM	600364
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104893968(G;G) rs104893968(T;T)
Alt	rs104893968(G;G) rs104893968(T;T)
Reference	Rs104893968(C;C)
Significance	Pathogenic
Disease	Cone dystrophy 3 not specified
Variation	info
Gene	GUCA1A
CLNDBN	Cone dystrophy 3 not specified
Reversed	0
HGVS	NC_000006.11:g.42141500C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009722.4, RCV000444625.1,