rs386834068

Orientation

plus

Stabilized

plus

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

Make rs386834068(-;ATG)

Make rs386834068(ATG;ATG)

Reference

GRCh38 38.1/142

Chromosome

8

Position

99875424

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834068
dbSNP (classic)	rs386834068
ClinGen	rs386834068
ebi	rs386834068
HLI	rs386834068
Exac	rs386834068
Gnomad	rs386834068
Varsome	rs386834068
LitVar	rs386834068
Map	rs386834068
PheGenI	rs386834068
Biobank	rs386834068
1000 genomes	rs386834068
hgdp	rs386834068
ensembl	rs386834068
geneview	rs386834068
scholar	rs386834068
google	rs386834068
pharmgkb	rs386834068
gwascentral	rs386834068
openSNP	rs386834068
23andMe	rs386834068
SNPshot	rs386834068
SNPdbe	rs386834068
MSV3d	rs386834068
GWAS Ctlg	rs386834068

Max Magnitude

0

ClinVar
Risk	rs386834068(ATG;ATG) rs386834068(GAT;GAT)
Alt	rs386834068(ATG;ATG) rs386834068(GAT;GAT)
Reference	Rs386834068(-;-)
Significance	Probable-Pathogenic
Disease	Cohen syndrome not provided
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome not provided
Reversed	0
HGVS	NC_000008.10:g.100887650_100887652dupATG
CLNSRC	HGMD
CLNACC	RCV000050055.1, RCV000081876.4,