rs180177362

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AAGTGTGGCTCAAGTTCA;AAGTGTGGCTCAAGTTCA)	0	common in clinvar
(AGTGTGGCTCAAGTTCAA;AGTGTGGCTCAAGTTCAA)	0	common in clinvar

Make rs180177362(-;-)

Make rs180177362(-;AGTGTGGCTCAAGTTCAA)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99577553

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs180177362
dbSNP (classic)	rs180177362
ClinGen	rs180177362
ebi	rs180177362
HLI	rs180177362
Exac	rs180177362
Gnomad	rs180177362
Varsome	rs180177362
LitVar	rs180177362
Map	rs180177362
PheGenI	rs180177362
Biobank	rs180177362
1000 genomes	rs180177362
hgdp	rs180177362
ensembl	rs180177362
geneview	rs180177362
scholar	rs180177362
google	rs180177362
pharmgkb	rs180177362
gwascentral	rs180177362
openSNP	rs180177362
23andMe	rs180177362
SNPshot	rs180177362
SNPdbe	rs180177362
MSV3d	rs180177362
GWAS Ctlg	rs180177362

Max Magnitude

0

ClinVar
Risk	rs180177362(-;-)
Alt	rs180177362(-;-)
Reference	Rs180177362(AAGTGTGGCTCAAGTTCA;AAGTGTGGCTCAAGTTCA)
Significance	Pathogenic
Disease	Cohen syndrome not provided
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome not provided
Reversed	0
HGVS	NC_000008.10:g.100589781_100589798del18
CLNSRC	ClinVar
CLNACC	RCV000050084.1, RCV000058898.1,

[PMID 16648375] Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.