rs1057517063

Orientation

plus

Stabilized

plus

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

Make rs1057517063(A;A)

Make rs1057517063(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99835739

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057517063
dbSNP (classic)	rs1057517063
ClinGen	rs1057517063
ebi	rs1057517063
HLI	rs1057517063
Exac	rs1057517063
Gnomad	rs1057517063
Varsome	rs1057517063
LitVar	rs1057517063
Map	rs1057517063
PheGenI	rs1057517063
Biobank	rs1057517063
1000 genomes	rs1057517063
hgdp	rs1057517063
ensembl	rs1057517063
geneview	rs1057517063
scholar	rs1057517063
google	rs1057517063
pharmgkb	rs1057517063
gwascentral	rs1057517063
openSNP	rs1057517063
23andMe	rs1057517063
SNPshot	rs1057517063
SNPdbe	rs1057517063
MSV3d	rs1057517063
GWAS Ctlg	rs1057517063

Max Magnitude

0

ClinVar
Risk	rs1057517063(A;A)
Alt	rs1057517063(A;A)
Reference	Rs1057517063(G;G)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100847967G>A
CLNSRC
CLNACC	RCV000409975.1,