rs730881673

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;A)	5	Malignant melanoma predisposing mutation
(-;AA)	5	Malignant melanoma predisposing mutation
(-;AC)	5	Malignant melanoma predisposing mutation
(C;C)	0	common in clinvar

Make rs730881673(AA;AA)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

21974696

Gene

CDKN2A

is a	snp
is	mentioned by
dbSNP	rs730881673
dbSNP (classic)	rs730881673
ClinGen	rs730881673
ebi	rs730881673
HLI	rs730881673
Exac	rs730881673
Gnomad	rs730881673
Varsome	rs730881673
LitVar	rs730881673
Map	rs730881673
PheGenI	rs730881673
Biobank	rs730881673
1000 genomes	rs730881673
hgdp	rs730881673
ensembl	rs730881673
geneview	rs730881673
scholar	rs730881673
google	rs730881673
pharmgkb	rs730881673
gwascentral	rs730881673
openSNP	rs730881673
23andMe	rs730881673
SNPshot	rs730881673
SNPdbe	rs730881673
MSV3d	rs730881673
GWAS Ctlg	rs730881673

Max Magnitude

5

rs730881673, also known as c.131_132insAA or p.Tyr44Terfs, represents a rare mutation in the CDKN2A gene on chromosome 9.

The rs730881673(insA), (insAA) and (insAC) alleles are all considered pathogenic in a dominant manner for malignant melanoma, based on sources in ClinVar and elsewhere. CDKN2A mutations may also predispose to other types of cancer.[PMID 12072543],[PMID 16234564]

ClinVar
Risk	rs730881673(AA;AA) rs730881673(A;A)
Alt	rs730881673(AA;AA) rs730881673(A;A)
Reference	Rs730881673(-;-)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome
Variation	info
Gene	CDKN2A
CLNDBN	Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000009.11:g.21974695_21974696insTT
CLNSRC
CLNACC	RCV000160403.2,