rs864622592

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	BAP1 Tumor Predisposition Syndrome

Make rs864622592(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

52406258

Gene

BAP1

is a	snp
is	mentioned by
dbSNP	rs864622592
dbSNP (classic)	rs864622592
ClinGen	rs864622592
ebi	rs864622592
HLI	rs864622592
Exac	rs864622592
Gnomad	rs864622592
Varsome	rs864622592
LitVar	rs864622592
Map	rs864622592
PheGenI	rs864622592
Biobank	rs864622592
1000 genomes	rs864622592
hgdp	rs864622592
ensembl	rs864622592
geneview	rs864622592
scholar	rs864622592
google	rs864622592
pharmgkb	rs864622592
gwascentral	rs864622592
openSNP	rs864622592
23andMe	rs864622592
SNPshot	rs864622592
SNPdbe	rs864622592
MSV3d	rs864622592
GWAS Ctlg	rs864622592

Max Magnitude

6

ClinVar
Risk	rs864622592(T;T)
Alt	rs864622592(T;T)
Reference	Rs864622592(C;C)
Significance	Pathogenic
Disease	Tumor susceptibility linked to germline BAP1 mutations
Variation	info
Gene	BAP1
CLNDBN	Tumor susceptibility linked to germline BAP1 mutations
Reversed	1
HGVS	NC_000003.11:g.52440274G>A
CLNSRC
CLNACC	RCV000205098.1,