rs869312867

Orientation

minus

Stabilized

minus

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

Make rs869312867(C;G)

Make rs869312867(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

23536610

Gene

SOX5

is a	snp
is	mentioned by
dbSNP	rs869312867
dbSNP (classic)	rs869312867
ClinGen	rs869312867
ebi	rs869312867
HLI	rs869312867
Exac	rs869312867
Gnomad	rs869312867
Varsome	rs869312867
LitVar	rs869312867
Map	rs869312867
PheGenI	rs869312867
Biobank	rs869312867
1000 genomes	rs869312867
hgdp	rs869312867
ensembl	rs869312867
geneview	rs869312867
scholar	rs869312867
google	rs869312867
pharmgkb	rs869312867
gwascentral	rs869312867
openSNP	rs869312867
23andMe	rs869312867
SNPshot	rs869312867
SNPdbe	rs869312867
MSV3d	rs869312867
GWAS Ctlg	rs869312867

Max Magnitude

0

ClinVar
Risk	rs869312867(G;G)
Alt	rs869312867(G;G)
Reference	Rs869312867(C;C)
Significance	Probable-Pathogenic
Disease	Cerebral visual impairment and intellectual disability
Variation	info
Gene	SOX5
CLNDBN	Cerebral visual impairment and intellectual disability
Reversed	1
HGVS	NC_000012.11:g.23689544G>C
CLNSRC
CLNACC	RCV000210408.1,