rs386834070

Orientation

plus

Stabilized

plus

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

Make rs386834070(C;T)

Make rs386834070(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99134644

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs386834070
dbSNP (classic)	rs386834070
ClinGen	rs386834070
ebi	rs386834070
HLI	rs386834070
Exac	rs386834070
Gnomad	rs386834070
Varsome	rs386834070
LitVar	rs386834070
Map	rs386834070
PheGenI	rs386834070
Biobank	rs386834070
1000 genomes	rs386834070
hgdp	rs386834070
ensembl	rs386834070
geneview	rs386834070
scholar	rs386834070
google	rs386834070
pharmgkb	rs386834070
gwascentral	rs386834070
openSNP	rs386834070
23andMe	rs386834070
SNPshot	rs386834070
SNPdbe	rs386834070
MSV3d	rs386834070
GWAS Ctlg	rs386834070

Max Magnitude

0

ClinVar
Risk	rs386834070(T;T)
Alt	rs386834070(T;T)
Reference	Rs386834070(C;C)
Significance	Pathogenic
Disease	Cohen syndrome not provided Attention deficit hyperactivity disorder Carious teeth Generalized joint laxity Global developmental delay Intellectual disability Microcephaly Muscular hypotonia Unsteady gait
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome not provided Attention deficit hyperactivity disorder Carious teeth Generalized joint laxity Global developmental delay Intellectual disability Microcephaly Muscular hypotonia Unsteady gait
Reversed	0
HGVS	NC_000008.10:g.100146872C>T
CLNSRC	ClinVar
CLNACC	RCV000050058.1, RCV000412863.1, RCV000491892.1,

[PMID 15173253] Broader geographical spectrum of Cohen syndrome due to COH1 mutations.