rs3731249

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs3731249(A;A)

Make rs3731249(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

21970917

Gene

CDKN2A

is a	snp
is	mentioned by
dbSNP	rs3731249
dbSNP (classic)	rs3731249
ClinGen	rs3731249
ebi	rs3731249
HLI	rs3731249
Exac	rs3731249
Gnomad	rs3731249
Varsome	rs3731249
LitVar	rs3731249
Map	rs3731249
PheGenI	rs3731249
Biobank	rs3731249
1000 genomes	rs3731249
hgdp	rs3731249
ensembl	rs3731249
geneview	rs3731249
scholar	rs3731249
google	rs3731249
pharmgkb	rs3731249
gwascentral	rs3731249
openSNP	rs3731249
23andMe	rs3731249
SNPshot	rs3731249
SNPdbe	rs3731249
MSV3d	rs3731249
GWAS Ctlg	rs3731249

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

[PMID 26104880 ] Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children

ClinVar
Risk	rs3731249(A;A) rs3731249(T;T)
Alt	rs3731249(A;A) rs3731249(T;T)
Reference	Rs3731249(G;G)
Significance	Non-pathogenic
Disease	Hereditary cutaneous melanoma not provided not specified Hereditary cancer-predisposing syndrome Melanoma-pancreatic cancer syndrome
Variation	info
Gene	CDKN2A
CLNDBN	Hereditary cutaneous melanoma not provided not specified Hereditary cancer-predisposing syndrome Melanoma-pancreatic cancer syndrome
Reversed	1
HGVS	NC_000009.11:g.21970916C>A; NC_000009.11:g.21970916C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000466987.1, RCV000034482.3, RCV000078114.6, RCV000119155.4, RCV000157755.3, RCV000412408.1,

[PMID 26463672 ] The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A

[PMID 26527286 ] A Heritable Missense Polymorphism in CDKN2A Confers Strong Risk of Childhood Acute Lymphoblastic Leukemia and Is Preferentially Selected during Clonal Evolution