rs1057517202

Orientation

plus

Stabilized

plus

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

Make rs1057517202(-;-)

Make rs1057517202(-;CACTGGATGA)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99861836

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057517202
dbSNP (classic)	rs1057517202
ClinGen	rs1057517202
ebi	rs1057517202
HLI	rs1057517202
Exac	rs1057517202
Gnomad	rs1057517202
Varsome	rs1057517202
LitVar	rs1057517202
Map	rs1057517202
PheGenI	rs1057517202
Biobank	rs1057517202
1000 genomes	rs1057517202
hgdp	rs1057517202
ensembl	rs1057517202
geneview	rs1057517202
scholar	rs1057517202
google	rs1057517202
pharmgkb	rs1057517202
gwascentral	rs1057517202
openSNP	rs1057517202
23andMe	rs1057517202
SNPshot	rs1057517202
SNPdbe	rs1057517202
MSV3d	rs1057517202
GWAS Ctlg	rs1057517202

Max Magnitude

0

ClinVar
Risk	rs1057517202(-;-)
Alt	rs1057517202(-;-)
Reference	Rs1057517202(CACTGGATGA;CACTGGATGA)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100874064_100874073delCACTGGATGA
CLNSRC
CLNACC	RCV000411667.1,