Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs876658511
rs876658511
CDKN2A
1.000 0.040 9 21971147 frameshift variant TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- delins
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2010 2010
dbSNP: rs878853645
rs878853645
CDKN2A
1.000 0.040 9 21971176 missense variant C/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2001 2001
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2002 2006