rs386834073

Orientation

plus

Stabilized

plus

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

Make rs386834073(A;G)

Make rs386834073(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99147839

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834073
dbSNP (classic)	rs386834073
ClinGen	rs386834073
ebi	rs386834073
HLI	rs386834073
Exac	rs386834073
Gnomad	rs386834073
Varsome	rs386834073
LitVar	rs386834073
Map	rs386834073
PheGenI	rs386834073
Biobank	rs386834073
1000 genomes	rs386834073
hgdp	rs386834073
ensembl	rs386834073
geneview	rs386834073
scholar	rs386834073
google	rs386834073
pharmgkb	rs386834073
gwascentral	rs386834073
openSNP	rs386834073
23andMe	rs386834073
SNPshot	rs386834073
SNPdbe	rs386834073
MSV3d	rs386834073
GWAS Ctlg	rs386834073

Max Magnitude

0

ClinVar
Risk	rs386834073(G;G)
Alt	rs386834073(G;G)
Reference	Rs386834073(A;A)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100160067A>G
CLNSRC	ClinVar
CLNACC	RCV000050061.1,

[PMID 20461111] High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.