rs587783018

Orientation

plus

Stabilized

plus

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

Make rs587783018(C;T)

Make rs587783018(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

21307762

Gene

RPGRIP1

is a	snp
is	mentioned by
dbSNP	rs587783018
dbSNP (classic)	rs587783018
ClinGen	rs587783018
ebi	rs587783018
HLI	rs587783018
Exac	rs587783018
Gnomad	rs587783018
Varsome	rs587783018
LitVar	rs587783018
Map	rs587783018
PheGenI	rs587783018
Biobank	rs587783018
1000 genomes	rs587783018
hgdp	rs587783018
ensembl	rs587783018
geneview	rs587783018
scholar	rs587783018
google	rs587783018
pharmgkb	rs587783018
gwascentral	rs587783018
openSNP	rs587783018
23andMe	rs587783018
SNPshot	rs587783018
SNPdbe	rs587783018
MSV3d	rs587783018
GWAS Ctlg	rs587783018

Max Magnitude

0

ClinVar
Risk	rs587783018(T;T)
Alt	rs587783018(T;T)
Reference	Rs587783018(C;C)
Significance	Pathogenic
Disease	Leber congenital amaurosis 6
Variation	info
Gene	RPGRIP1
CLNDBN	Leber congenital amaurosis 6
Reversed	0
HGVS	NC_000014.8:g.21775921C>T
CLNSRC
CLNACC	RCV000144469.1,