rs180177135

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	7	Fanconi anemia, complementation group N
(-;A)	5	PALB2-related cancer risk
(A;A)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

16

Position

23607891

Gene

PALB2

is a	snp
is	mentioned by
dbSNP	rs180177135
dbSNP (classic)	rs180177135
ClinGen	rs180177135
ebi	rs180177135
HLI	rs180177135
Exac	rs180177135
Gnomad	rs180177135
Varsome	rs180177135
LitVar	rs180177135
Map	rs180177135
PheGenI	rs180177135
Biobank	rs180177135
1000 genomes	rs180177135
hgdp	rs180177135
ensembl	rs180177135
geneview	rs180177135
scholar	rs180177135
google	rs180177135
pharmgkb	rs180177135
gwascentral	rs180177135
openSNP	rs180177135
23andMe	rs180177135
SNPshot	rs180177135
SNPdbe	rs180177135
MSV3d	rs180177135
GWAS Ctlg	rs180177135

Max Magnitude

7

ClinVar
Risk	Rs180177135(-;-)
Alt	Rs180177135(-;-)
Reference	Rs180177135(A;A)
Significance	Pathogenic
Disease	Fanconi anemia Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Variation	info
Gene	PALB2
CLNDBN	Fanconi anemia, complementation group N Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Reversed	1
HGVS	NC_000016.9:g.23619212delT
CLNSRC	PALB2 database
CLNACC	RCV000114618.1, RCV000132282.4, RCV000168157.5, RCV000235326.2,

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