rs1057516681

Orientation

plus

Stabilized

plus

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

Make rs1057516681(A;T)

Make rs1057516681(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99192883

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516681
dbSNP (classic)	rs1057516681
ClinGen	rs1057516681
ebi	rs1057516681
HLI	rs1057516681
Exac	rs1057516681
Gnomad	rs1057516681
Varsome	rs1057516681
LitVar	rs1057516681
Map	rs1057516681
PheGenI	rs1057516681
Biobank	rs1057516681
1000 genomes	rs1057516681
hgdp	rs1057516681
ensembl	rs1057516681
geneview	rs1057516681
scholar	rs1057516681
google	rs1057516681
pharmgkb	rs1057516681
gwascentral	rs1057516681
openSNP	rs1057516681
23andMe	rs1057516681
SNPshot	rs1057516681
SNPdbe	rs1057516681
MSV3d	rs1057516681
GWAS Ctlg	rs1057516681

Max Magnitude

0

ClinVar
Risk	rs1057516681(T;T)
Alt	rs1057516681(T;T)
Reference	Rs1057516681(A;A)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100205111A>T
CLNSRC
CLNACC	RCV000410894.1,