rs535922252

Orientation

plus

Stabilized

plus

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

Make rs535922252(A;G)

Make rs535922252(G;G)

Reference

GRCh38 38.1/142

Chromosome

14

Position

21324747

Gene

RPGRIP1

is a	snp
is	mentioned by
dbSNP	rs535922252
dbSNP (classic)	rs535922252
ClinGen	rs535922252
ebi	rs535922252
HLI	rs535922252
Exac	rs535922252
Gnomad	rs535922252
Varsome	rs535922252
LitVar	rs535922252
Map	rs535922252
PheGenI	rs535922252
Biobank	rs535922252
1000 genomes	rs535922252
hgdp	rs535922252
ensembl	rs535922252
geneview	rs535922252
scholar	rs535922252
google	rs535922252
pharmgkb	rs535922252
gwascentral	rs535922252
openSNP	rs535922252
23andMe	rs535922252
SNPshot	rs535922252
SNPdbe	rs535922252
MSV3d	rs535922252
GWAS Ctlg	rs535922252

Max Magnitude

0

ClinVar
Risk	rs535922252(G;G) rs535922252(T;T)
Alt	rs535922252(G;G) rs535922252(T;T)
Reference	Rs535922252(A;A)
Significance	Pathogenic
Disease	Leber congenital amaurosis 6
Variation	info
Gene	RPGRIP1
CLNDBN	Leber congenital amaurosis 6
Reversed	0
HGVS	NC_000014.8:g.21792906A>T
CLNSRC	ClinVar
CLNACC	RCV000144462.1,