rs386834083

Orientation

plus

Stabilized

plus

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

Make rs386834083(-;T)

Make rs386834083(T;T)

Reference

GRCh38 38.1/142

Chromosome

8

Position

99096424

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834083
dbSNP (classic)	rs386834083
ClinGen	rs386834083
ebi	rs386834083
HLI	rs386834083
Exac	rs386834083
Gnomad	rs386834083
Varsome	rs386834083
LitVar	rs386834083
Map	rs386834083
PheGenI	rs386834083
Biobank	rs386834083
1000 genomes	rs386834083
hgdp	rs386834083
ensembl	rs386834083
geneview	rs386834083
scholar	rs386834083
google	rs386834083
pharmgkb	rs386834083
gwascentral	rs386834083
openSNP	rs386834083
23andMe	rs386834083
SNPshot	rs386834083
SNPdbe	rs386834083
MSV3d	rs386834083
GWAS Ctlg	rs386834083

Max Magnitude

0

ClinVar
Risk	rs386834083(T;T)
Alt	rs386834083(T;T)
Reference	Rs386834083(-;-)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100108652dupT
CLNSRC	ClinVar
CLNACC	RCV000050074.1,