rs1057516495

Orientation

plus

Stabilized

plus

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

Make rs1057516495(-;-)

Make rs1057516495(-;GTCTTCTGGGGTCAAG)

Make rs1057516495(GTCTTCTGGGGTCAAG;GTCTTCTGGGGTCAAG)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99720345

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516495
dbSNP (classic)	rs1057516495
ClinGen	rs1057516495
ebi	rs1057516495
HLI	rs1057516495
Exac	rs1057516495
Gnomad	rs1057516495
Varsome	rs1057516495
LitVar	rs1057516495
Map	rs1057516495
PheGenI	rs1057516495
Biobank	rs1057516495
1000 genomes	rs1057516495
hgdp	rs1057516495
ensembl	rs1057516495
geneview	rs1057516495
scholar	rs1057516495
google	rs1057516495
pharmgkb	rs1057516495
gwascentral	rs1057516495
openSNP	rs1057516495
23andMe	rs1057516495
SNPshot	rs1057516495
SNPdbe	rs1057516495
MSV3d	rs1057516495
GWAS Ctlg	rs1057516495

Max Magnitude

0

ClinVar
Risk	rs1057516495(-;-)
Alt	rs1057516495(-;-)
Reference	Rs1057516495(AAGGTCTTCTGGGGTC;AAGGTCTTCTGGGGTC)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100732573_100732588del16
CLNSRC
CLNACC	RCV000410227.1,