rs28933695

Orientation

plus

Stabilized

plus

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

Make rs28933695(C;C)

Make rs28933695(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8014699

Gene

GUCY2D

is a	snp
is	mentioned by
dbSNP	rs28933695
dbSNP (classic)	rs28933695
ClinGen	rs28933695
ebi	rs28933695
HLI	rs28933695
Exac	rs28933695
Gnomad	rs28933695
Varsome	rs28933695
LitVar	rs28933695
Map	rs28933695
PheGenI	rs28933695
Biobank	rs28933695
1000 genomes	rs28933695
hgdp	rs28933695
ensembl	rs28933695
geneview	rs28933695
scholar	rs28933695
google	rs28933695
pharmgkb	rs28933695
gwascentral	rs28933695
openSNP	rs28933695
23andMe	rs28933695
SNPshot	rs28933695
SNPdbe	rs28933695
MSV3d	rs28933695
GWAS Ctlg	rs28933695

Max Magnitude

0

OMIM	600179
Desc	CONE-ROD DYSTROPHY 6
Variant	0005
Related	also

ClinVar
Risk	rs28933695(C;C)
Alt	rs28933695(C;C)
Reference	Rs28933695(G;G)
Significance	Pathogenic
Disease	Cone-rod dystrophy 6 not provided
Variation	info
Gene	GUCY2D
CLNDBN	Cone-rod dystrophy 6 not provided
Reversed	0
HGVS	NC_000017.10:g.7918017G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009948.4, RCV000009950.2, RCV000084860.1,