rs104894116

Orientation

plus

Stabilized

plus

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

Make rs104894116(C;G)

Make rs104894116(G;G)

Reference

GRCh37 37.1/132

Chromosome

9

Position

2718506

Gene

KCNV2

is a	snp
is	mentioned by
dbSNP	rs104894116
dbSNP (classic)	rs104894116
ClinGen	rs104894116
ebi	rs104894116
HLI	rs104894116
Exac	rs104894116
Gnomad	rs104894116
Varsome	rs104894116
LitVar	rs104894116
Map	rs104894116
PheGenI	rs104894116
Biobank	rs104894116
1000 genomes	rs104894116
hgdp	rs104894116
ensembl	rs104894116
geneview	rs104894116
scholar	rs104894116
google	rs104894116
pharmgkb	rs104894116
gwascentral	rs104894116
openSNP	rs104894116
23andMe	rs104894116
SNPshot	rs104894116
SNPdbe	rs104894116
MSV3d	rs104894116
GWAS Ctlg	rs104894116

Max Magnitude

0

OMIM	607604
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894116(G;G) rs104894116(T;T)
Alt	rs104894116(G;G) rs104894116(T;T)
Reference	Rs104894116(C;C)
Significance	Pathogenic
Disease	Retinal cone dystrophy 3B
Variation	info
Gene	KCNV2
CLNDBN	Retinal cone dystrophy 3B
Reversed	0
HGVS	NC_000009.11:g.2718506C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003150.2,