rs375129361

Orientation

plus

Stabilized

plus

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

Make rs375129361(A;A)

Make rs375129361(A;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

52408056

Gene

BAP1

is a	snp
is	mentioned by
dbSNP	rs375129361
dbSNP (classic)	rs375129361
ClinGen	rs375129361
ebi	rs375129361
HLI	rs375129361
Exac	rs375129361
Gnomad	rs375129361
Varsome	rs375129361
LitVar	rs375129361
Map	rs375129361
PheGenI	rs375129361
Biobank	rs375129361
1000 genomes	rs375129361
hgdp	rs375129361
ensembl	rs375129361
geneview	rs375129361
scholar	rs375129361
google	rs375129361
pharmgkb	rs375129361
gwascentral	rs375129361
openSNP	rs375129361
23andMe	rs375129361
SNPshot	rs375129361
SNPdbe	rs375129361
MSV3d	rs375129361
GWAS Ctlg	rs375129361

Max Magnitude

6

ClinVar
Risk	rs375129361(A;A) rs375129361(C;C)
Alt	rs375129361(A;A) rs375129361(C;C)
Reference	Rs375129361(T;T)
Significance	Pathogenic
Disease	Tumor susceptibility linked to germline BAP1 mutations
Variation	info
Gene	BAP1
CLNDBN	Tumor susceptibility linked to germline BAP1 mutations
Reversed	0
HGVS	NC_000003.11:g.52442072T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000049290.3,