rs386834061

Orientation

plus

Stabilized

plus

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

Make rs386834061(C;T)

Make rs386834061(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99868312

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834061
dbSNP (classic)	rs386834061
ClinGen	rs386834061
ebi	rs386834061
HLI	rs386834061
Exac	rs386834061
Gnomad	rs386834061
Varsome	rs386834061
LitVar	rs386834061
Map	rs386834061
PheGenI	rs386834061
Biobank	rs386834061
1000 genomes	rs386834061
hgdp	rs386834061
ensembl	rs386834061
geneview	rs386834061
scholar	rs386834061
google	rs386834061
pharmgkb	rs386834061
gwascentral	rs386834061
openSNP	rs386834061
23andMe	rs386834061
SNPshot	rs386834061
SNPdbe	rs386834061
MSV3d	rs386834061
GWAS Ctlg	rs386834061

Max Magnitude

0

ClinVar
Risk	rs386834061(T;T)
Alt	rs386834061(T;T)
Reference	Rs386834061(C;C)
Significance	Pathogenic
Disease	Cohen syndrome Intellectual disability Microcephaly Neutropenia Progressive visual loss Recurrent aphthous stomatitis Retinal dystrophy Short foot Short stature Small hand
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome Intellectual disability Microcephaly Neutropenia Progressive visual loss Recurrent aphthous stomatitis Retinal dystrophy Short foot Short stature Small hand
Reversed	0
HGVS	NC_000008.10:g.100880540C>T
CLNSRC	ClinVar
CLNACC	RCV000050048.1, RCV000415410.1,

[PMID 15154116] Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

[PMID 17990063] Clinical and molecular characterization of Italian patients affected by Cohen syndrome.