rs1060503750

Orientation

minus

Stabilized

minus

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

Make rs1060503750(G;T)

Make rs1060503750(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

52408473

Gene

BAP1

is a	snp
is	mentioned by
dbSNP	rs1060503750
dbSNP (classic)	rs1060503750
ClinGen	rs1060503750
ebi	rs1060503750
HLI	rs1060503750
Exac	rs1060503750
Gnomad	rs1060503750
Varsome	rs1060503750
LitVar	rs1060503750
Map	rs1060503750
PheGenI	rs1060503750
Biobank	rs1060503750
1000 genomes	rs1060503750
hgdp	rs1060503750
ensembl	rs1060503750
geneview	rs1060503750
scholar	rs1060503750
google	rs1060503750
pharmgkb	rs1060503750
gwascentral	rs1060503750
openSNP	rs1060503750
23andMe	rs1060503750
SNPshot	rs1060503750
SNPdbe	rs1060503750
MSV3d	rs1060503750
GWAS Ctlg	rs1060503750

Max Magnitude

0

ClinVar
Risk	rs1060503750(T;T)
Alt	rs1060503750(T;T)
Reference	Rs1060503750(G;G)
Significance	Probable-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.52442489C>A
CLNSRC
CLNACC	RCV000475336.1,