rs281865175

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGGGCAACTC;AGGGCAACTC)	0	common in clinvar
(GGGCAACTCA;GGGCAACTCA)	0	common in clinvar

Make rs281865175(-;-)

Make rs281865175(-;GGGCAACTCA)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

197477776

Gene

CRB1

is a	snp
is	mentioned by
dbSNP	rs281865175
dbSNP (classic)	rs281865175
ClinGen	rs281865175
ebi	rs281865175
HLI	rs281865175
Exac	rs281865175
Gnomad	rs281865175
Varsome	rs281865175
LitVar	rs281865175
Map	rs281865175
PheGenI	rs281865175
Biobank	rs281865175
1000 genomes	rs281865175
hgdp	rs281865175
ensembl	rs281865175
geneview	rs281865175
scholar	rs281865175
google	rs281865175
pharmgkb	rs281865175
gwascentral	rs281865175
openSNP	rs281865175
23andMe	rs281865175
SNPshot	rs281865175
SNPdbe	rs281865175
MSV3d	rs281865175
GWAS Ctlg	rs281865175

Merged from

Rs786200886

Max Magnitude

0

ClinVar
Risk	rs281865175(-;-) rs281865175(CAACTCAGGG;CAACTCAGGG)
Alt	rs281865175(-;-) rs281865175(CAACTCAGGG;CAACTCAGGG)
Reference	Rs281865175(GGGCAACTCA;GGGCAACTCA)
Significance	Pathogenic
Disease	Retinitis pigmentosa 12 Leber congenital amaurosis 8 not provided
Variation	info
Gene	CRB1
CLNDBN	Retinitis pigmentosa 12 Leber congenital amaurosis 8 not provided
Reversed	0
HGVS	NC_000001.10:g.197446909_197446918delCAACTCAGGG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006095.3, RCV000006096.3, RCV000086353.1,