rs1057516633

Orientation

plus

Stabilized

plus

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

Make rs1057516633(C;T)

Make rs1057516633(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99642105

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516633
dbSNP (classic)	rs1057516633
ClinGen	rs1057516633
ebi	rs1057516633
HLI	rs1057516633
Exac	rs1057516633
Gnomad	rs1057516633
Varsome	rs1057516633
LitVar	rs1057516633
Map	rs1057516633
PheGenI	rs1057516633
Biobank	rs1057516633
1000 genomes	rs1057516633
hgdp	rs1057516633
ensembl	rs1057516633
geneview	rs1057516633
scholar	rs1057516633
google	rs1057516633
pharmgkb	rs1057516633
gwascentral	rs1057516633
openSNP	rs1057516633
23andMe	rs1057516633
SNPshot	rs1057516633
SNPdbe	rs1057516633
MSV3d	rs1057516633
GWAS Ctlg	rs1057516633

Max Magnitude

0

ClinVar
Risk	rs1057516633(T;T)
Alt	rs1057516633(T;T)
Reference	Rs1057516633(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100654333C>T
CLNSRC
CLNACC	RCV000412236.1,