rs121918272

Orientation

plus

Stabilized

plus

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

Make rs121918272(C;C)

Make rs121918272(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

124875150

Gene

ROBO3

is a	snp
is	mentioned by
dbSNP	rs121918272
dbSNP (classic)	rs121918272
ClinGen	rs121918272
ebi	rs121918272
HLI	rs121918272
Exac	rs121918272
Gnomad	rs121918272
Varsome	rs121918272
LitVar	rs121918272
Map	rs121918272
PheGenI	rs121918272
Biobank	rs121918272
1000 genomes	rs121918272
hgdp	rs121918272
ensembl	rs121918272
geneview	rs121918272
scholar	rs121918272
google	rs121918272
pharmgkb	rs121918272
gwascentral	rs121918272
openSNP	rs121918272
23andMe	rs121918272
SNPshot	rs121918272
SNPdbe	rs121918272
MSV3d	rs121918272
GWAS Ctlg	rs121918272

Max Magnitude

0

OMIM	608630
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918272(A;A) rs121918272(C;C)
Alt	rs121918272(A;A) rs121918272(C;C)
Reference	Rs121918272(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.124745046T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002259.4,