rs746834149

plus

Geno	Mag	Summary
(C;C)	0	common/normal
(C;T)	5	Malignant melanoma predisposing mutation

Make rs746834149(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

9

Position

21974724

Gene

CDKN2A

is a	snp
is	mentioned by
dbSNP	rs746834149
dbSNP (classic)	rs746834149
ClinGen	rs746834149
ebi	rs746834149
HLI	rs746834149
Exac	rs746834149
Gnomad	rs746834149
Varsome	rs746834149
LitVar	rs746834149
Map	rs746834149
PheGenI	rs746834149
Biobank	rs746834149
1000 genomes	rs746834149
hgdp	rs746834149
ensembl	rs746834149
geneview	rs746834149
scholar	rs746834149
google	rs746834149
pharmgkb	rs746834149
gwascentral	rs746834149
openSNP	rs746834149
23andMe	rs746834149
SNPshot	rs746834149
SNPdbe	rs746834149
MSV3d	rs746834149
GWAS Ctlg	rs746834149

Max Magnitude

5

rs746834149, also known as c.104G>A, p.Gly35Ala and G35A, represents a rare mutation in the CDKN2A gene on chromosome 9. Note that dbSNP shows the mutation in plus orientation as C>T, but ClinVar and a paper cited below cite evidence for the observed mutation in minus orientation as G>A.

The rs746834149(A) 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 ]

ClinVar
Risk	rs746834149(A;A) Rs746834149(G;G) rs746834149(T;T)
Alt	rs746834149(A;A) Rs746834149(G;G) rs746834149(T;T)
Reference	Rs746834149(C;C)
Significance	Unknown
Disease	Hereditary cutaneous melanoma
Variation	info
Gene	CDKN2A
CLNDBN	Hereditary cutaneous melanoma
Reversed	0
HGVS	NC_000009.11:g.21974723C>A; NC_000009.11:g.21974723C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000474098.1, RCV000168280.1,