rs755579388

Orientation

plus

Stabilized

plus

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

Make rs755579388(A;A)

Make rs755579388(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

9

Position

4583108

Gene	SLC1A1, SPATA6L

is a	snp
is	mentioned by
dbSNP	rs755579388
dbSNP (classic)	rs755579388
ClinGen	rs755579388
ebi	rs755579388
HLI	rs755579388
Exac	rs755579388
Gnomad	rs755579388
Varsome	rs755579388
LitVar	rs755579388
Map	rs755579388
PheGenI	rs755579388
Biobank	rs755579388
1000 genomes	rs755579388
hgdp	rs755579388
ensembl	rs755579388
geneview	rs755579388
scholar	rs755579388
google	rs755579388
pharmgkb	rs755579388
gwascentral	rs755579388
openSNP	rs755579388
23andMe	rs755579388
SNPshot	rs755579388
SNPdbe	rs755579388
MSV3d	rs755579388
GWAS Ctlg	rs755579388

Max Magnitude

0

ClinVar
Risk	rs755579388(A;A)
Alt	rs755579388(A;A)
Reference	Rs755579388(G;G)
Significance	Probable-Pathogenic
Disease	Cerebral visual impairment and intellectual disability
Variation	info
Gene	SPATA6L SLC1A1
CLNDBN	Cerebral visual impairment and intellectual disability
Reversed	0
HGVS	NC_000009.11:g.4583108G>A
CLNSRC
CLNACC	RCV000210380.1,