rs386834095

Orientation

plus

Stabilized

plus

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

Make rs386834095(-;T)

Make rs386834095(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99642128

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834095
dbSNP (classic)	rs386834095
ClinGen	rs386834095
ebi	rs386834095
HLI	rs386834095
Exac	rs386834095
Gnomad	rs386834095
Varsome	rs386834095
LitVar	rs386834095
Map	rs386834095
PheGenI	rs386834095
Biobank	rs386834095
1000 genomes	rs386834095
hgdp	rs386834095
ensembl	rs386834095
geneview	rs386834095
scholar	rs386834095
google	rs386834095
pharmgkb	rs386834095
gwascentral	rs386834095
openSNP	rs386834095
23andMe	rs386834095
SNPshot	rs386834095
SNPdbe	rs386834095
MSV3d	rs386834095
GWAS Ctlg	rs386834095

Max Magnitude

0

ClinVar
Risk	rs386834095(T;T)
Alt	rs386834095(T;T)
Reference	Rs386834095(-;-)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100654356_100654357insT
CLNSRC	ClinVar
CLNACC	RCV000050088.1,

[PMID 15141358] Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.