rs1800586

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	7	Pancreatic cancer/Melanoma Syndrome

Make rs1800586(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

21974861

Gene

CDKN2A

is a	snp
is	mentioned by
dbSNP	rs1800586
dbSNP (classic)	rs1800586
ClinGen	rs1800586
ebi	rs1800586
HLI	rs1800586
Exac	rs1800586
Gnomad	rs1800586
Varsome	rs1800586
LitVar	rs1800586
Map	rs1800586
PheGenI	rs1800586
Biobank	rs1800586
1000 genomes	rs1800586
hgdp	rs1800586
ensembl	rs1800586
geneview	rs1800586
scholar	rs1800586
google	rs1800586
pharmgkb	rs1800586
gwascentral	rs1800586
openSNP	rs1800586
23andMe	rs1800586
SNPshot	rs1800586
SNPdbe	rs1800586
MSV3d	rs1800586
GWAS Ctlg	rs1800586

Max Magnitude

7

rs1800586, also known as c.-34G>T, represents a rare mutation in the CDKN2A gene on chromosome 9.

The rs1800586(T) 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	rs1800586(A;A) rs1800586(C;C) rs1800586(T;T)
Alt	rs1800586(A;A) rs1800586(C;C) rs1800586(T;T)
Reference	Rs1800586(G;G)
Significance	Pathogenic
Disease	not provided Hereditary cutaneous melanoma Hereditary cancer-predisposing syndrome not specified Melanoma-pancreatic cancer syndrome
Variation	info
Gene	CDKN2A
CLNDBN	not provided Hereditary cutaneous melanoma Hereditary cancer-predisposing syndrome not specified Melanoma-pancreatic cancer syndrome
Reversed	1
HGVS	NC_000009.11:g.21974860C>A; NC_000009.11:g.21974860C>G; NC_000009.11:g.21974860C>T
CLNSRC
CLNACC	RCV000160410.4, RCV000168189.4, RCV000493169.1, RCV000236694.2, RCV000410324.1, RCV000439448.1,