rs1057517441

Orientation

plus

Stabilized

plus

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

Make rs1057517441(A;A)

Make rs1057517441(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99868288

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057517441
dbSNP (classic)	rs1057517441
ClinGen	rs1057517441
ebi	rs1057517441
HLI	rs1057517441
Exac	rs1057517441
Gnomad	rs1057517441
Varsome	rs1057517441
LitVar	rs1057517441
Map	rs1057517441
PheGenI	rs1057517441
Biobank	rs1057517441
1000 genomes	rs1057517441
hgdp	rs1057517441
ensembl	rs1057517441
geneview	rs1057517441
scholar	rs1057517441
google	rs1057517441
pharmgkb	rs1057517441
gwascentral	rs1057517441
openSNP	rs1057517441
23andMe	rs1057517441
SNPshot	rs1057517441
SNPdbe	rs1057517441
MSV3d	rs1057517441
GWAS Ctlg	rs1057517441

Max Magnitude

0

ClinVar
Risk	rs1057517441(A;A)
Alt	rs1057517441(A;A)
Reference	Rs1057517441(G;G)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100880516G>A
CLNSRC
CLNACC	RCV000412099.1,