rs768966657

plus

Geno	Mag	Summary
(;)	0	common in clinvar
(-;-)	0	common/normal
(-;GAC)	6	For those w/ cancer, a slightly worse prognosis; also, slightly increased melanoma risk

Make rs768966657(GAC;GAC)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

21971021

Gene

CDKN2A

is a	snp
is	mentioned by
dbSNP	rs768966657
dbSNP (classic)	rs768966657
ClinGen	rs768966657
ebi	rs768966657
HLI	rs768966657
Exac	rs768966657
Gnomad	rs768966657
Varsome	rs768966657
LitVar	rs768966657
Map	rs768966657
PheGenI	rs768966657
Biobank	rs768966657
1000 genomes	rs768966657
hgdp	rs768966657
ensembl	rs768966657
geneview	rs768966657
scholar	rs768966657
google	rs768966657
pharmgkb	rs768966657
gwascentral	rs768966657
openSNP	rs768966657
23andMe	rs768966657
SNPshot	rs768966657
SNPdbe	rs768966657
MSV3d	rs768966657
GWAS Ctlg	rs768966657

Max Magnitude

6

rs768966657, also known as c.335_337dupGTC, p.Arg112_Leu113insArg and Argdup112, represents a mutation in the CDKN2A gene on chromosome 9.

This appears to the mutation described by Borg et al. [PMID 8653684 ] as a founder mutation predisposing to melanoma from ~2000 years ago from southern Sweden.

More recently, cancer patients who have a CDKN2A Argdup112 mutation are reported to have a worse survival than non-carriers for both melanoma (hazard ratio 2.5, CI: 1.49 - 4.21) and especially non-melanoma cancers (HR 7.77, CI: 3.65 - 16.51).[PMID 27287845] news

ClinVar
Risk	rs768966657(GAC;GAC)
Alt	rs768966657(GAC;GAC)
Reference	Rs768966657(-;-)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Hereditary cutaneous melanoma not provided
Variation	info
Gene	CDKN2A
CLNDBN	Hereditary cancer-predisposing syndrome Hereditary cutaneous melanoma not provided
Reversed	0
HGVS	NC_000009.11:g.21971021_21971023dupGAC
CLNSRC
CLNACC	RCV000162477.2, RCV000232355.1, RCV000237004.1,