rs587777693

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(CAG;CAG)	0	common in clinvar
(CAGT;CAGT)	0	common in clinvar
(CTG;CTG)	0	common in clinvar
(I;I)	0	common genotype

Make rs587777693(-;-)

Make rs587777693(-;CTG)

Reference

GRCh38 38.1/142

Chromosome

12

Position

89497242

Gene

POC1B

is a	snp
is	mentioned by
dbSNP	rs587777693
dbSNP (classic)	rs587777693
ClinGen	rs587777693
ebi	rs587777693
HLI	rs587777693
Exac	rs587777693
Gnomad	rs587777693
Varsome	rs587777693
LitVar	rs587777693
Map	rs587777693
PheGenI	rs587777693
Biobank	rs587777693
1000 genomes	rs587777693
hgdp	rs587777693
ensembl	rs587777693
geneview	rs587777693
scholar	rs587777693
google	rs587777693
pharmgkb	rs587777693
gwascentral	rs587777693
openSNP	rs587777693
23andMe	rs587777693
SNPshot	rs587777693
SNPdbe	rs587777693
MSV3d	rs587777693
GWAS Ctlg	rs587777693

Max Magnitude

0

ClinVar
Risk	Rs587777693(CTG;CTG) rs587777693(-;-)
Alt	Rs587777693(CTG;CTG) rs587777693(-;-)
Reference	Rs587777693(CAG;CAG)
Significance	Pathogenic
Disease	Cone-rod dystrophy 20
Variation	info
Gene	POC1B
CLNDBN	Cone-rod dystrophy 20
Reversed	1
HGVS	NC_000012.11:g.89891019_89891021delCTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000143863.3,