rs1057517328

Orientation

plus

Stabilized

plus

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

Make rs1057517328(-;T)

Make rs1057517328(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99875552

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057517328
dbSNP (classic)	rs1057517328
ClinGen	rs1057517328
ebi	rs1057517328
HLI	rs1057517328
Exac	rs1057517328
Gnomad	rs1057517328
Varsome	rs1057517328
LitVar	rs1057517328
Map	rs1057517328
PheGenI	rs1057517328
Biobank	rs1057517328
1000 genomes	rs1057517328
hgdp	rs1057517328
ensembl	rs1057517328
geneview	rs1057517328
scholar	rs1057517328
google	rs1057517328
pharmgkb	rs1057517328
gwascentral	rs1057517328
openSNP	rs1057517328
23andMe	rs1057517328
SNPshot	rs1057517328
SNPdbe	rs1057517328
MSV3d	rs1057517328
GWAS Ctlg	rs1057517328

Max Magnitude

0

ClinVar
Risk	rs1057517328(T;T)
Alt	rs1057517328(T;T)
Reference	Rs1057517328(-;-)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100887780dupT
CLNSRC
CLNACC	RCV000410555.1,