rs1057516670

Orientation

plus

Stabilized

plus

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

Make rs1057516670(-;ATCATATCAGGCCTCTGAA)

Make rs1057516670(ATCATATCAGGCCTCTGAA;ATCATATCAGGCCTCTGAA)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99391667

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057516670
dbSNP (classic)	rs1057516670
ClinGen	rs1057516670
ebi	rs1057516670
HLI	rs1057516670
Exac	rs1057516670
Gnomad	rs1057516670
Varsome	rs1057516670
LitVar	rs1057516670
Map	rs1057516670
PheGenI	rs1057516670
Biobank	rs1057516670
1000 genomes	rs1057516670
hgdp	rs1057516670
ensembl	rs1057516670
geneview	rs1057516670
scholar	rs1057516670
google	rs1057516670
pharmgkb	rs1057516670
gwascentral	rs1057516670
openSNP	rs1057516670
23andMe	rs1057516670
SNPshot	rs1057516670
SNPdbe	rs1057516670
MSV3d	rs1057516670
GWAS Ctlg	rs1057516670

Max Magnitude

0

ClinVar
Risk	rs1057516670(AATCATATCAGGCCTCTGA;AATCATATCAGGCCTCTGA)
Alt	rs1057516670(AATCATATCAGGCCTCTGA;AATCATATCAGGCCTCTGA)
Reference	Rs1057516670(-;-)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100403877_100403895dup19
CLNSRC
CLNACC	RCV000410992.1,