rs180177116

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	7	Fanconi anemia, complementation group N
(-;A)	3	increased risk of breast cancer
(A;A)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

16

Position

23629269

Gene

PALB2

is a	snp
is	mentioned by
dbSNP	rs180177116
dbSNP (classic)	rs180177116
ClinGen	rs180177116
ebi	rs180177116
HLI	rs180177116
Exac	rs180177116
Gnomad	rs180177116
Varsome	rs180177116
LitVar	rs180177116
Map	rs180177116
PheGenI	rs180177116
Biobank	rs180177116
1000 genomes	rs180177116
hgdp	rs180177116
ensembl	rs180177116
geneview	rs180177116
scholar	rs180177116
google	rs180177116
pharmgkb	rs180177116
gwascentral	rs180177116
openSNP	rs180177116
23andMe	rs180177116
SNPshot	rs180177116
SNPdbe	rs180177116
MSV3d	rs180177116
GWAS Ctlg	rs180177116

Max Magnitude

7

ClinVar
Risk	Rs180177116(-;-)
Alt	Rs180177116(-;-)
Reference	Rs180177116(A;A)
Significance	Pathogenic
Disease	Fanconi anemia
Variation	info
Gene	PALB2
CLNDBN	Fanconi anemia, complementation group N
Reversed	1
HGVS	NC_000016.9:g.23640590delT
CLNSRC	PALB2 database
CLNACC	RCV000114535.1,

[PMID 17200671] Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.