rs118203999

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(C;T)	5	PALB2-related cancer risk
(T;T)	7	Fanconi anemia, complementation group N

Reference

GRCh38 38.1/141

Chromosome

16

Position

23623003

Gene

PALB2

is a	snp
is	mentioned by
dbSNP	rs118203999
dbSNP (classic)	rs118203999
ClinGen	rs118203999
ebi	rs118203999
HLI	rs118203999
Exac	rs118203999
Gnomad	rs118203999
Varsome	rs118203999
LitVar	rs118203999
Map	rs118203999
PheGenI	rs118203999
Biobank	rs118203999
1000 genomes	rs118203999
hgdp	rs118203999
ensembl	rs118203999
geneview	rs118203999
scholar	rs118203999
google	rs118203999
pharmgkb	rs118203999
gwascentral	rs118203999
openSNP	rs118203999
23andMe	rs118203999
SNPshot	rs118203999
SNPdbe	rs118203999
MSV3d	rs118203999
GWAS Ctlg	rs118203999

Max Magnitude

7

OMIM	610355
Desc
Variant	0004
Related	also

OMIM	114480
Desc
Variant
Related	also

ClinVar
Risk	Rs118203999(T;T)
Alt	Rs118203999(T;T)
Reference	Rs118203999(C;C)
Significance	Other
Disease	Fanconi anemia Breast cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	PALB2
CLNDBN	Fanconi anemia, complementation group N Breast cancer, susceptibility to Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000016.9:g.23634324G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001306.2, RCV000001307.2, RCV000129469.3,

[PMID 21365267] PALB2 mutations in familial breast and pancreatic cancer.