rs1057516287

Orientation

plus

Stabilized

plus

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

Make rs1057516287(C;T)

Make rs1057516287(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99699821

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516287
dbSNP (classic)	rs1057516287
ClinGen	rs1057516287
ebi	rs1057516287
HLI	rs1057516287
Exac	rs1057516287
Gnomad	rs1057516287
Varsome	rs1057516287
LitVar	rs1057516287
Map	rs1057516287
PheGenI	rs1057516287
Biobank	rs1057516287
1000 genomes	rs1057516287
hgdp	rs1057516287
ensembl	rs1057516287
geneview	rs1057516287
scholar	rs1057516287
google	rs1057516287
pharmgkb	rs1057516287
gwascentral	rs1057516287
openSNP	rs1057516287
23andMe	rs1057516287
SNPshot	rs1057516287
SNPdbe	rs1057516287
MSV3d	rs1057516287
GWAS Ctlg	rs1057516287

Max Magnitude

0

ClinVar
Risk	rs1057516287(T;T)
Alt	rs1057516287(T;T)
Reference	Rs1057516287(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100712049C>T
CLNSRC
CLNACC	RCV000412237.1,