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rs3731249

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3731249(A;A)
Make rs3731249(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position21970917
GeneCDKN2A
is asnp
is mentioned by
dbSNPrs3731249
ebirs3731249
HLIrs3731249
Exacrs3731249
Varsomers3731249
Maprs3731249
PheGenIrs3731249
hapmaprs3731249
1000 genomesrs3731249
hgdprs3731249
ensemblrs3731249
gopubmedrs3731249
geneviewrs3731249
scholarrs3731249
googlers3731249
pharmgkbrs3731249
gwascentralrs3731249
openSNPrs3731249
23andMers3731249
23andMe allrs3731249
SNP Nexus

SNPshotrs3731249
SNPdbers3731249
MSV3drs3731249
GWAS Ctlgrs3731249
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 26104880OA-icon.png] Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children


ClinVar
Risk rs3731249(A;A)
Alt rs3731249(A;A)
Reference rs3731249(G;G)
Significance Non-pathogenic
Disease not provided not specified Hereditary cutaneous melanoma Hereditary cancer-predisposing syndrome
Variation info
Gene CDKN2A
CLNDBN not provided not specified Hereditary cutaneous melanoma Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000009.11:g.21970916C>T
CLNSRC HGMD
CLNACC RCV000034482.3, RCV000078114.5, RCV000119155.3, RCV000157755.3,



[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