rs397515384

Orientation

minus

Stabilized

minus

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

Make rs397515384(A;A)

Make rs397515384(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

109608607

Gene

GNAT2

is a	snp
is	mentioned by
dbSNP	rs397515384
dbSNP (classic)	rs397515384
ClinGen	rs397515384
ebi	rs397515384
HLI	rs397515384
Exac	rs397515384
Gnomad	rs397515384
Varsome	rs397515384
LitVar	rs397515384
Map	rs397515384
PheGenI	rs397515384
Biobank	rs397515384
1000 genomes	rs397515384
hgdp	rs397515384
ensembl	rs397515384
geneview	rs397515384
scholar	rs397515384
google	rs397515384
pharmgkb	rs397515384
gwascentral	rs397515384
openSNP	rs397515384
23andMe	rs397515384
SNPshot	rs397515384
SNPdbe	rs397515384
MSV3d	rs397515384
GWAS Ctlg	rs397515384

Max Magnitude

0

Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.

ClinVar
Risk	rs397515384(A;A)
Alt	rs397515384(A;A)
Reference	Rs397515384(G;G)
Significance	Pathogenic
Disease	Achromatopsia 4
Variation	info
Gene	GNAT2
CLNDBN	Achromatopsia 4
Reversed	1
HGVS	NC_000001.10:g.110151229C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017276.27,