rs786200944

Orientation

minus

Stabilized

minus

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

Make rs786200944(C;T)

Make rs786200944(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

13376553

Gene

RAB28

is a	snp
is	mentioned by
dbSNP	rs786200944
dbSNP (classic)	rs786200944
ClinGen	rs786200944
ebi	rs786200944
HLI	rs786200944
Exac	rs786200944
Gnomad	rs786200944
Varsome	rs786200944
LitVar	rs786200944
Map	rs786200944
PheGenI	rs786200944
Biobank	rs786200944
1000 genomes	rs786200944
hgdp	rs786200944
ensembl	rs786200944
geneview	rs786200944
scholar	rs786200944
google	rs786200944
pharmgkb	rs786200944
gwascentral	rs786200944
openSNP	rs786200944
23andMe	rs786200944
SNPshot	rs786200944
SNPdbe	rs786200944
MSV3d	rs786200944
GWAS Ctlg	rs786200944

Max Magnitude

0

ClinVar
Risk	rs786200944(T;T)
Alt	rs786200944(T;T)
Reference	Rs786200944(C;C)
Significance	Pathogenic
Disease	Cone-rod dystrophy 18
Variation	info
Gene	RAB28
CLNDBN	Cone-rod dystrophy 18
Reversed	1
HGVS	NC_000004.11:g.13378177G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054527.3,