rs1057516422

Orientation

plus

Stabilized

plus

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

Make rs1057516422(C;T)

Make rs1057516422(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99096396

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516422
dbSNP (classic)	rs1057516422
ClinGen	rs1057516422
ebi	rs1057516422
HLI	rs1057516422
Exac	rs1057516422
Gnomad	rs1057516422
Varsome	rs1057516422
LitVar	rs1057516422
Map	rs1057516422
PheGenI	rs1057516422
Biobank	rs1057516422
1000 genomes	rs1057516422
hgdp	rs1057516422
ensembl	rs1057516422
geneview	rs1057516422
scholar	rs1057516422
google	rs1057516422
pharmgkb	rs1057516422
gwascentral	rs1057516422
openSNP	rs1057516422
23andMe	rs1057516422
SNPshot	rs1057516422
SNPdbe	rs1057516422
MSV3d	rs1057516422
GWAS Ctlg	rs1057516422

Max Magnitude

0

ClinVar
Risk	rs1057516422(T;T)
Alt	rs1057516422(T;T)
Reference	Rs1057516422(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100108624C>T
CLNSRC
CLNACC	RCV000411018.1,