rs121918275

Orientation

plus

Stabilized

plus

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

Make rs121918275(C;C)

Make rs121918275(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

124865591

Gene

ROBO3

is a	snp
is	mentioned by
dbSNP	rs121918275
dbSNP (classic)	rs121918275
ClinGen	rs121918275
ebi	rs121918275
HLI	rs121918275
Exac	rs121918275
Gnomad	rs121918275
Varsome	rs121918275
LitVar	rs121918275
Map	rs121918275
PheGenI	rs121918275
Biobank	rs121918275
1000 genomes	rs121918275
hgdp	rs121918275
ensembl	rs121918275
geneview	rs121918275
scholar	rs121918275
google	rs121918275
pharmgkb	rs121918275
gwascentral	rs121918275
openSNP	rs121918275
23andMe	rs121918275
SNPshot	rs121918275
SNPdbe	rs121918275
MSV3d	rs121918275
GWAS Ctlg	rs121918275

Max Magnitude

0

OMIM	608630
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121918275(C;C)
Alt	rs121918275(C;C)
Reference	Rs121918275(T;T)
Significance	Pathogenic
Disease	Gaze palsy
Variation	info
Gene	ROBO3
CLNDBN	Gaze palsy, familial horizontal, with progressive scoliosis
Reversed	0
HGVS	NC_000011.9:g.124735487T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002263.4,