rs28940272

Orientation

plus

Stabilized

plus

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

Make rs28940272(A;G)

Make rs28940272(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99820031

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs28940272
dbSNP (classic)	rs28940272
ClinGen	rs28940272
ebi	rs28940272
HLI	rs28940272
Exac	rs28940272
Gnomad	rs28940272
Varsome	rs28940272
LitVar	rs28940272
Map	rs28940272
PheGenI	rs28940272
Biobank	rs28940272
1000 genomes	rs28940272
hgdp	rs28940272
ensembl	rs28940272
geneview	rs28940272
scholar	rs28940272
google	rs28940272
pharmgkb	rs28940272
gwascentral	rs28940272
openSNP	rs28940272
23andMe	rs28940272
SNPshot	rs28940272
SNPdbe	rs28940272
MSV3d	rs28940272
GWAS Ctlg	rs28940272

GMAF

0.001837

Max Magnitude

0

OMIM	607817
Desc	Cohen Syndrome
Variant	0004
Related	also

ClinVar
Risk	rs28940272(G;G)
Alt	rs28940272(G;G)
Reference	Rs28940272(A;A)
Significance	Other
Disease	Cohen syndrome not specified
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome not specified
Reversed	0
HGVS	NC_000008.10:g.100832259A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002955.3, RCV000081920.6,