rs104894097

minus

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

Make rs104894097(C;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

21974757

Gene

CDKN2A

is a	snp
is	mentioned by
dbSNP	rs104894097
dbSNP (classic)	rs104894097
ClinGen	rs104894097
ebi	rs104894097
HLI	rs104894097
Exac	rs104894097
Gnomad	rs104894097
Varsome	rs104894097
LitVar	rs104894097
Map	rs104894097
PheGenI	rs104894097
Biobank	rs104894097
1000 genomes	rs104894097
hgdp	rs104894097
ensembl	rs104894097
geneview	rs104894097
scholar	rs104894097
google	rs104894097
pharmgkb	rs104894097
gwascentral	rs104894097
openSNP	rs104894097
23andMe	rs104894097
SNPshot	rs104894097
SNPdbe	rs104894097
MSV3d	rs104894097
GWAS Ctlg	rs104894097

Max Magnitude

5

rs104894097, also known as c.71G>C, p.Arg24Pro and R24P, represents a rare mutation in the CDKN2A gene on chromosome 9.

The rs104894097(C) allele is 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 ]

OMIM	600160
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894097(A;A) rs104894097(C;C)
Alt	rs104894097(A;A) rs104894097(C;C)
Reference	Rs104894097(G;G)
Significance	Other
Disease	Melanoma Hereditary cancer-predisposing syndrome not provided Melanoma-pancreatic cancer syndrome Hereditary cutaneous melanoma
Variation	info
Gene	CDKN2A
CLNDBN	Melanoma, cutaneous malignant, susceptibility to, 2 Hereditary cancer-predisposing syndrome not provided Melanoma-pancreatic cancer syndrome Hereditary cutaneous melanoma
Reversed	1
HGVS	NC_000009.11:g.21974756C>G; NC_000009.11:g.21974756C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010022.2, RCV000167312.3, RCV000236320.1, RCV000410204.1, RCV000472219.1, RCV000473279.1,