rs28939720

Orientation

plus

Stabilized

plus

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

Make rs28939720(C;T)

Make rs28939720(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197427559

Gene

CRB1

is a	snp
is	mentioned by
dbSNP	rs28939720
dbSNP (classic)	rs28939720
ClinGen	rs28939720
ebi	rs28939720
HLI	rs28939720
Exac	rs28939720
Gnomad	rs28939720
Varsome	rs28939720
LitVar	rs28939720
Map	rs28939720
PheGenI	rs28939720
Biobank	rs28939720
1000 genomes	rs28939720
hgdp	rs28939720
ensembl	rs28939720
geneview	rs28939720
scholar	rs28939720
google	rs28939720
pharmgkb	rs28939720
gwascentral	rs28939720
openSNP	rs28939720
23andMe	rs28939720
SNPshot	rs28939720
SNPdbe	rs28939720
MSV3d	rs28939720
GWAS Ctlg	rs28939720

Max Magnitude

0

OMIM	604210
Desc	RETINITIS PIGMENTOSA 12
Variant	0005
Related	also

ClinVar
Risk	rs28939720(A;A) rs28939720(G;G) rs28939720(T;T)
Alt	rs28939720(A;A) rs28939720(G;G) rs28939720(T;T)
Reference	Rs28939720(C;C)
Significance	Pathogenic
Disease	Retinitis pigmentosa 12 not provided
Variation	info
Gene	CRB1
CLNDBN	Retinitis pigmentosa 12 not provided
Reversed	0
HGVS	NC_000001.10:g.197396689C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006087.3, RCV000086315.1,