rs878853647

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;G)	5	Malignant melanoma predisposing mutation
(G;G)	0	common in clinvar

Make rs878853647(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

9

Position

21971099

Gene

CDKN2A

is a	snp
is	mentioned by
dbSNP	rs878853647
dbSNP (classic)	rs878853647
ClinGen	rs878853647
ebi	rs878853647
HLI	rs878853647
Exac	rs878853647
Gnomad	rs878853647
Varsome	rs878853647
LitVar	rs878853647
Map	rs878853647
PheGenI	rs878853647
Biobank	rs878853647
1000 genomes	rs878853647
hgdp	rs878853647
ensembl	rs878853647
geneview	rs878853647
scholar	rs878853647
google	rs878853647
pharmgkb	rs878853647
gwascentral	rs878853647
openSNP	rs878853647
23andMe	rs878853647
SNPshot	rs878853647
SNPdbe	rs878853647
MSV3d	rs878853647
GWAS Ctlg	rs878853647

Max Magnitude

5

rs878853647, also known as c.260G>C, p.Arg87Pro and R87P, is a rare variant in the CDKN2A gene on chromosome 9.

The rs878853647(C) variant is considered pathogenic in ClinVar for a dominantly inherited form of melanoma.

ClinVar
Risk	rs878853647(A;A) rs878853647(C;C)
Alt	rs878853647(A;A) rs878853647(C;C)
Reference	Rs878853647(G;G)
Significance	Pathogenic
Disease	Hereditary cutaneous melanoma
Variation	info
Gene	CDKN2A
CLNDBN	Hereditary cutaneous melanoma
Reversed	1
HGVS	NC_000009.11:g.21971098C>G
CLNSRC
CLNACC	RCV000229122.2,