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rs730881673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;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(-;-)
Make rs730881673(AA;AA)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position21974696
GeneCDKN2A
is asnp
is mentioned by
dbSNPrs730881673
ebirs730881673
HLIrs730881673
Exacrs730881673
Varsomers730881673
Maprs730881673
PheGenIrs730881673
hapmaprs730881673
1000 genomesrs730881673
hgdprs730881673
ensemblrs730881673
gopubmedrs730881673
geneviewrs730881673
scholarrs730881673
googlers730881673
pharmgkbrs730881673
gwascentralrs730881673
openSNPrs730881673
23andMers730881673
23andMe allrs730881673
SNP Nexus

SNPshotrs730881673
SNPdbers730881673
MSV3drs730881673
GWAS Ctlgrs730881673
Max Magnitude5

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 12072543OA-icon.png],[PMID 16234564OA-icon.png]

ClinVar
Risk rs730881673(AAC,AC;AAC,AC)
Alt rs730881673(AAC,AC;AAC,AC)
Reference rs730881673(C;C)
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 RCV000160403.1,