Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1287464120
rs1287464120
CDKN2A ; CDKN2B-AS1
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. 17440112

2007
dbSNP: rs1287464120
rs1287464120
CDKN2A ; CDKN2B-AS1
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR A mutation hotspot at the p14ARF splice site. 15856016

2005
dbSNP: rs1287464120
rs1287464120
CDKN2A ; CDKN2B-AS1
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. 11571653

2001