rs386834055

Orientation

plus

Stabilized

plus

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

Make rs386834055(-;A)

Make rs386834055(A;A)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99853470

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834055
dbSNP (classic)	rs386834055
ClinGen	rs386834055
ebi	rs386834055
HLI	rs386834055
Exac	rs386834055
Gnomad	rs386834055
Varsome	rs386834055
LitVar	rs386834055
Map	rs386834055
PheGenI	rs386834055
Biobank	rs386834055
1000 genomes	rs386834055
hgdp	rs386834055
ensembl	rs386834055
geneview	rs386834055
scholar	rs386834055
google	rs386834055
pharmgkb	rs386834055
gwascentral	rs386834055
openSNP	rs386834055
23andMe	rs386834055
SNPshot	rs386834055
SNPdbe	rs386834055
MSV3d	rs386834055
GWAS Ctlg	rs386834055

Max Magnitude

0

ClinVar
Risk	rs386834055(A;A)
Alt	rs386834055(A;A)
Reference	Rs386834055(-;-)
Significance	Other
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100865698dupA
CLNSRC	University Hospital of Geneva
CLNACC	RCV000050042.3,

[PMID 22855652] Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.