rs118203997

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

23634893

Gene

PALB2

is a	snp
is	mentioned by
dbSNP	rs118203997
dbSNP (classic)	rs118203997
ClinGen	rs118203997
ebi	rs118203997
HLI	rs118203997
Exac	rs118203997
Gnomad	rs118203997
Varsome	rs118203997
LitVar	rs118203997
Map	rs118203997
PheGenI	rs118203997
Biobank	rs118203997
1000 genomes	rs118203997
hgdp	rs118203997
ensembl	rs118203997
geneview	rs118203997
scholar	rs118203997
google	rs118203997
pharmgkb	rs118203997
gwascentral	rs118203997
openSNP	rs118203997
23andMe	rs118203997
SNPshot	rs118203997
SNPdbe	rs118203997
MSV3d	rs118203997
GWAS Ctlg	rs118203997

Max Magnitude

7

OMIM	610355
Desc
Variant	0001
Related	also

OMIM	114480
Desc
Variant
Related	also

ClinVar
Risk	Rs118203997(A;A) rs118203997(C;C)
Alt	Rs118203997(A;A) rs118203997(C;C)
Reference	Rs118203997(T;T)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Fanconi anemia not provided Familial cancer of breast
Variation	info
Gene	PALB2
CLNDBN	Hereditary cancer-predisposing syndrome Fanconi anemia, complementation group N not provided Familial cancer of breast
Reversed	1
HGVS	NC_000016.9:g.23646214A>G; NC_000016.9:g.23646214A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000219143.1, RCV000001302.2, RCV000217204.1, RCV000235772.2, RCV000476387.1,

[PMID 21285249] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.