rs1057517447

Orientation

plus

Stabilized

plus

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

Make rs1057517447(-;-)

Make rs1057517447(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

99431587

Gene

VPS13B

is a	snp
is	mentioned by
dbSNP	rs1057517447
dbSNP (classic)	rs1057517447
ClinGen	rs1057517447
ebi	rs1057517447
HLI	rs1057517447
Exac	rs1057517447
Gnomad	rs1057517447
Varsome	rs1057517447
LitVar	rs1057517447
Map	rs1057517447
PheGenI	rs1057517447
Biobank	rs1057517447
1000 genomes	rs1057517447
hgdp	rs1057517447
ensembl	rs1057517447
geneview	rs1057517447
scholar	rs1057517447
google	rs1057517447
pharmgkb	rs1057517447
gwascentral	rs1057517447
openSNP	rs1057517447
23andMe	rs1057517447
SNPshot	rs1057517447
SNPdbe	rs1057517447
MSV3d	rs1057517447
GWAS Ctlg	rs1057517447

Max Magnitude

0

ClinVar
Risk	rs1057517447(-;-)
Alt	rs1057517447(-;-)
Reference	Rs1057517447(A;A)
Significance	Probable-Pathogenic
Disease	Cohen syndrome
Variation	info
Gene	VPS13B
CLNDBN	Cohen syndrome
Reversed	0
HGVS	NC_000008.10:g.100443815delA
CLNSRC
CLNACC	RCV000410238.1,