rs1057517255

Orientation

plus

Stabilized

plus

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

Make rs1057517255(A;CC)

Make rs1057517255(CC;CC)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99275246

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057517255
dbSNP (classic)	rs1057517255
ClinGen	rs1057517255
ebi	rs1057517255
HLI	rs1057517255
Exac	rs1057517255
Gnomad	rs1057517255
Varsome	rs1057517255
LitVar	rs1057517255
Map	rs1057517255
PheGenI	rs1057517255
Biobank	rs1057517255
1000 genomes	rs1057517255
hgdp	rs1057517255
ensembl	rs1057517255
geneview	rs1057517255
scholar	rs1057517255
google	rs1057517255
pharmgkb	rs1057517255
gwascentral	rs1057517255
openSNP	rs1057517255
23andMe	rs1057517255
SNPshot	rs1057517255
SNPdbe	rs1057517255
MSV3d	rs1057517255
GWAS Ctlg	rs1057517255

Max Magnitude

0

ClinVar
Risk	rs1057517255(CC;CC)
Alt	rs1057517255(CC;CC)
Reference	Rs1057517255(A;A)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100287474delAinsCC
CLNSRC
CLNACC	RCV000411611.1,