rs104893967

Orientation

plus

Stabilized

plus

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

Make rs104893967(A;G)

Make rs104893967(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

42178374

Gene

GUCA1A

is a	snp
is	mentioned by
dbSNP	rs104893967
dbSNP (classic)	rs104893967
ClinGen	rs104893967
ebi	rs104893967
HLI	rs104893967
Exac	rs104893967
Gnomad	rs104893967
Varsome	rs104893967
LitVar	rs104893967
Map	rs104893967
PheGenI	rs104893967
Biobank	rs104893967
1000 genomes	rs104893967
hgdp	rs104893967
ensembl	rs104893967
geneview	rs104893967
scholar	rs104893967
google	rs104893967
pharmgkb	rs104893967
gwascentral	rs104893967
openSNP	rs104893967
23andMe	rs104893967
SNPshot	rs104893967
SNPdbe	rs104893967
MSV3d	rs104893967
GWAS Ctlg	rs104893967

Max Magnitude

0

OMIM	600364
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104893967(G;G)
Alt	rs104893967(G;G)
Reference	Rs104893967(A;A)
Significance	Pathogenic
Disease	Cone dystrophy 3 not provided
Variation	info
Gene	GUCA1A
CLNDBN	Cone dystrophy 3 not provided
Reversed	0
HGVS	NC_000006.11:g.42146112A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009721.3, RCV000414574.1,