rs1057516660

Orientation

plus

Stabilized

plus

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

Make rs1057516660(A;T)

Make rs1057516660(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99766903

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516660
dbSNP (classic)	rs1057516660
ClinGen	rs1057516660
ebi	rs1057516660
HLI	rs1057516660
Exac	rs1057516660
Gnomad	rs1057516660
Varsome	rs1057516660
LitVar	rs1057516660
Map	rs1057516660
PheGenI	rs1057516660
Biobank	rs1057516660
1000 genomes	rs1057516660
hgdp	rs1057516660
ensembl	rs1057516660
geneview	rs1057516660
scholar	rs1057516660
google	rs1057516660
pharmgkb	rs1057516660
gwascentral	rs1057516660
openSNP	rs1057516660
23andMe	rs1057516660
SNPshot	rs1057516660
SNPdbe	rs1057516660
MSV3d	rs1057516660
GWAS Ctlg	rs1057516660

Max Magnitude

0

ClinVar
Risk	rs1057516660(T;T)
Alt	rs1057516660(T;T)
Reference	Rs1057516660(A;A)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100779131A>T
CLNSRC
CLNACC	RCV000410123.1,