rs786205121

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AACA;AACA)	0	common in clinvar
(CAAA;CAAA)	0	common in clinvar

Make rs786205121(-;-)

Make rs786205121(-;AACA)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

2717747

Gene

KCNV2

is a	snp
is	mentioned by
dbSNP	rs786205121
dbSNP (classic)	rs786205121
ClinGen	rs786205121
ebi	rs786205121
HLI	rs786205121
Exac	rs786205121
Gnomad	rs786205121
Varsome	rs786205121
LitVar	rs786205121
Map	rs786205121
PheGenI	rs786205121
Biobank	rs786205121
1000 genomes	rs786205121
hgdp	rs786205121
ensembl	rs786205121
geneview	rs786205121
scholar	rs786205121
google	rs786205121
pharmgkb	rs786205121
gwascentral	rs786205121
openSNP	rs786205121
23andMe	rs786205121
SNPshot	rs786205121
SNPdbe	rs786205121
MSV3d	rs786205121
GWAS Ctlg	rs786205121

Max Magnitude

0

ClinVar
Risk	rs786205121(-;-) Rs786205121(CAAA;CAAA)
Alt	rs786205121(-;-) Rs786205121(CAAA;CAAA)
Reference	Rs786205121(AACA;AACA)
Significance	Pathogenic
Disease	Retinal cone dystrophy 3B not provided
Variation	info
Gene	KCNV2
CLNDBN	Retinal cone dystrophy 3B not provided
Reversed	0
HGVS	NC_000009.11:g.2717747_2717750delAACA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033031.3, RCV000255104.1,