rs767982852

Orientation

plus

Stabilized

plus

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

Make rs767982852(C;C)

Make rs767982852(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

197694417

Gene

RUBCN

is a	snp
is	mentioned by
dbSNP	rs767982852
dbSNP (classic)	rs767982852
ClinGen	rs767982852
ebi	rs767982852
HLI	rs767982852
Exac	rs767982852
Gnomad	rs767982852
Varsome	rs767982852
LitVar	rs767982852
Map	rs767982852
PheGenI	rs767982852
Biobank	rs767982852
1000 genomes	rs767982852
hgdp	rs767982852
ensembl	rs767982852
geneview	rs767982852
scholar	rs767982852
google	rs767982852
pharmgkb	rs767982852
gwascentral	rs767982852
openSNP	rs767982852
23andMe	rs767982852
SNPshot	rs767982852
SNPdbe	rs767982852
MSV3d	rs767982852
GWAS Ctlg	rs767982852

Max Magnitude

0

ClinVar
Risk	rs767982852(C;C)
Alt	rs767982852(C;C)
Reference	Rs767982852(T;T)
Significance	Pathogenic
Disease	Cerebral hypomyelination Elbow flexion contracture Global developmental delay Intellectual disability Knee flexion contracture Muscular hypotonia Nystagmus
Variation	info
Gene	RUBCN KIAA0226
CLNDBN	Cerebral hypomyelination Elbow flexion contracture Global developmental delay Intellectual disability Knee flexion contracture Muscular hypotonia Nystagmus
Reversed	0
HGVS	NC_000003.11:g.197421288T>C
CLNSRC
CLNACC	RCV000491821.1,