rs120074155

Orientation

plus

Stabilized

plus

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

Make rs120074155(C;C)

Make rs120074155(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

99818473

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs120074155
dbSNP (classic)	rs120074155
ClinGen	rs120074155
ebi	rs120074155
HLI	rs120074155
Exac	rs120074155
Gnomad	rs120074155
Varsome	rs120074155
LitVar	rs120074155
Map	rs120074155
PheGenI	rs120074155
Biobank	rs120074155
1000 genomes	rs120074155
hgdp	rs120074155
ensembl	rs120074155
geneview	rs120074155
scholar	rs120074155
google	rs120074155
pharmgkb	rs120074155
gwascentral	rs120074155
openSNP	rs120074155
23andMe	rs120074155
SNPshot	rs120074155
SNPdbe	rs120074155
MSV3d	rs120074155
GWAS Ctlg	rs120074155

Max Magnitude

0

OMIM	607817
Desc	Cohen Syndrome
Variant	0010
Related	also

ClinVar
Risk	rs120074155(C;C)
Alt	rs120074155(C;C)
Reference	Rs120074155(T;T)
Significance	Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100830701T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002961.4,