rs397509413

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;G)	6	BAP1 Tumor Predisposition Syndrome
(-;GG)	6	BAP1 Tumor Predisposition Syndrome
(GG;GG)	0	common in clinvar

Make rs397509413(-;-)

Reference

GRCh38 38.1/141

Chromosome

3

Position

52409597

Gene	BAP1, PHF7

is a	snp
is	mentioned by
dbSNP	rs397509413
dbSNP (classic)	rs397509413
ClinGen	rs397509413
ebi	rs397509413
HLI	rs397509413
Exac	rs397509413
Gnomad	rs397509413
Varsome	rs397509413
LitVar	rs397509413
Map	rs397509413
PheGenI	rs397509413
Biobank	rs397509413
1000 genomes	rs397509413
hgdp	rs397509413
ensembl	rs397509413
geneview	rs397509413
scholar	rs397509413
google	rs397509413
pharmgkb	rs397509413
gwascentral	rs397509413
openSNP	rs397509413
23andMe	rs397509413
SNPshot	rs397509413
SNPdbe	rs397509413
MSV3d	rs397509413
GWAS Ctlg	rs397509413

Max Magnitude

6

ClinVar
Risk	rs397509413(-;-)
Alt	rs397509413(-;-)
Reference	Rs397509413(GG;GG)
Significance	Pathogenic
Disease	Tumor susceptibility linked to germline BAP1 mutations
Variation	info
Gene	PHF7 BAP1
CLNDBN	Tumor susceptibility linked to germline BAP1 mutations
Reversed	1
HGVS	NC_000003.11:g.52443613_52443614delCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000049289.3,