rs1057516331

Orientation

plus

Stabilized

plus

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

Make rs1057516331(A;A)

Make rs1057516331(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99699777

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516331
dbSNP (classic)	rs1057516331
ClinGen	rs1057516331
ebi	rs1057516331
HLI	rs1057516331
Exac	rs1057516331
Gnomad	rs1057516331
Varsome	rs1057516331
LitVar	rs1057516331
Map	rs1057516331
PheGenI	rs1057516331
Biobank	rs1057516331
1000 genomes	rs1057516331
hgdp	rs1057516331
ensembl	rs1057516331
geneview	rs1057516331
scholar	rs1057516331
google	rs1057516331
pharmgkb	rs1057516331
gwascentral	rs1057516331
openSNP	rs1057516331
23andMe	rs1057516331
SNPshot	rs1057516331
SNPdbe	rs1057516331
MSV3d	rs1057516331
GWAS Ctlg	rs1057516331

Max Magnitude

0

ClinVar
Risk	rs1057516331(A;A)
Alt	rs1057516331(A;A)
Reference	Rs1057516331(G;G)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100712005G>A
CLNSRC
CLNACC	RCV000411092.1,