rs137853138

Orientation

plus

Stabilized

plus

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

Make rs137853138(A;A)

Make rs137853138(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197328835

Gene

CRB1

is a	snp
is	mentioned by
dbSNP	rs137853138
dbSNP (classic)	rs137853138
ClinGen	rs137853138
ebi	rs137853138
HLI	rs137853138
Exac	rs137853138
Gnomad	rs137853138
Varsome	rs137853138
LitVar	rs137853138
Map	rs137853138
PheGenI	rs137853138
Biobank	rs137853138
1000 genomes	rs137853138
hgdp	rs137853138
ensembl	rs137853138
geneview	rs137853138
scholar	rs137853138
google	rs137853138
pharmgkb	rs137853138
gwascentral	rs137853138
openSNP	rs137853138
23andMe	rs137853138
SNPshot	rs137853138
SNPdbe	rs137853138
MSV3d	rs137853138
GWAS Ctlg	rs137853138

GMAF

0.002296

Max Magnitude

0

OMIM	604210
Desc
Variant	0010
Related	also

ClinVar
Risk	rs137853138(A;A)
Alt	rs137853138(A;A)
Reference	Rs137853138(G;G)
Significance	Other
Disease	Pigmented paravenous chorioretinal atrophy not specified Leber congenital amaurosis Retinitis Pigmentosa
Variation	info
Gene	CRB1
CLNDBN	Pigmented paravenous chorioretinal atrophy not specified Leber congenital amaurosis Retinitis Pigmentosa, Recessive
Reversed	0
HGVS	NC_000001.10:g.197297965G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006092.4, RCV000082821.4, RCV000262530.1, RCV000353078.1,