rs1057517385

Orientation

plus

Stabilized

plus

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

Make rs1057517385(A;A)

Make rs1057517385(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99871552

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057517385
dbSNP (classic)	rs1057517385
ClinGen	rs1057517385
ebi	rs1057517385
HLI	rs1057517385
Exac	rs1057517385
Gnomad	rs1057517385
Varsome	rs1057517385
LitVar	rs1057517385
Map	rs1057517385
PheGenI	rs1057517385
Biobank	rs1057517385
1000 genomes	rs1057517385
hgdp	rs1057517385
ensembl	rs1057517385
geneview	rs1057517385
scholar	rs1057517385
google	rs1057517385
pharmgkb	rs1057517385
gwascentral	rs1057517385
openSNP	rs1057517385
23andMe	rs1057517385
SNPshot	rs1057517385
SNPdbe	rs1057517385
MSV3d	rs1057517385
GWAS Ctlg	rs1057517385

Max Magnitude

0

ClinVar
Risk	rs1057517385(A;A)
Alt	rs1057517385(A;A)
Reference	Rs1057517385(C;C)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100883780C>A
CLNSRC
CLNACC	RCV000410701.1,