rs397514604

Orientation

plus

Stabilized

plus

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

Make rs397514604(C;C)

Make rs397514604(C;T)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

2718230

Gene

KCNV2

is a	snp
is	mentioned by
dbSNP	rs397514604
dbSNP (classic)	rs397514604
ClinGen	rs397514604
ebi	rs397514604
HLI	rs397514604
Exac	rs397514604
Gnomad	rs397514604
Varsome	rs397514604
LitVar	rs397514604
Map	rs397514604
PheGenI	rs397514604
Biobank	rs397514604
1000 genomes	rs397514604
hgdp	rs397514604
ensembl	rs397514604
geneview	rs397514604
scholar	rs397514604
google	rs397514604
pharmgkb	rs397514604
gwascentral	rs397514604
openSNP	rs397514604
23andMe	rs397514604
SNPshot	rs397514604
SNPdbe	rs397514604
MSV3d	rs397514604
GWAS Ctlg	rs397514604

Max Magnitude

0

ClinVar
Risk	rs397514604(C;C)
Alt	rs397514604(C;C)
Reference	Rs397514604(T;T)
Significance	Pathogenic
Disease	Retinal cone dystrophy 3B
Variation	info
Gene	KCNV2
CLNDBN	Retinal cone dystrophy 3B
Reversed	0
HGVS	NC_000009.11:g.2718230T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033033.3,