rs386834069

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CCAGCTGTTC;CCAGCTGTTC)	0	common in clinvar
(CCCAGCTGTT;CCCAGCTGTT)	0	common in clinvar
(I;I)	0	common genotype

Make rs386834069(-;-)

Make rs386834069(-;CCAGCTGTTC)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99875503

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834069
dbSNP (classic)	rs386834069
ClinGen	rs386834069
ebi	rs386834069
HLI	rs386834069
Exac	rs386834069
Gnomad	rs386834069
Varsome	rs386834069
LitVar	rs386834069
Map	rs386834069
PheGenI	rs386834069
Biobank	rs386834069
1000 genomes	rs386834069
hgdp	rs386834069
ensembl	rs386834069
geneview	rs386834069
scholar	rs386834069
google	rs386834069
pharmgkb	rs386834069
gwascentral	rs386834069
openSNP	rs386834069
23andMe	rs386834069
SNPshot	rs386834069
SNPdbe	rs386834069
MSV3d	rs386834069
GWAS Ctlg	rs386834069

Max Magnitude

0

ClinVar
Risk	rs386834069(-;-)
Alt	rs386834069(-;-)
Reference	Rs386834069(CCCAGCTGTT;CCCAGCTGTT)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100887731_100887740delCCAGCTGTTC
CLNSRC	ClinVar
CLNACC	RCV000050056.1,

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