rs376517859

Orientation

plus

Stabilized

plus

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

Make rs376517859(A;G)

Make rs376517859(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

21351102

Gene	RPGRIP1, SUPT16H

is a	snp
is	mentioned by
dbSNP	rs376517859
dbSNP (classic)	rs376517859
ClinGen	rs376517859
ebi	rs376517859
HLI	rs376517859
Exac	rs376517859
Gnomad	rs376517859
Varsome	rs376517859
LitVar	rs376517859
Map	rs376517859
PheGenI	rs376517859
Biobank	rs376517859
1000 genomes	rs376517859
hgdp	rs376517859
ensembl	rs376517859
geneview	rs376517859
scholar	rs376517859
google	rs376517859
pharmgkb	rs376517859
gwascentral	rs376517859
openSNP	rs376517859
23andMe	rs376517859
SNPshot	rs376517859
SNPdbe	rs376517859
MSV3d	rs376517859
GWAS Ctlg	rs376517859

Max Magnitude

0

ClinVar
Risk	rs376517859(G;G)
Alt	rs376517859(G;G)
Reference	Rs376517859(A;A)
Significance	Pathogenic
Disease	Cone-rod dystrophy 13
Variation	info
Gene	SUPT16H RPGRIP1
CLNDBN	Cone-rod dystrophy 13
Reversed	0
HGVS	NC_000014.8:g.21819261A>G
CLNSRC
CLNACC	RCV000176499.1,