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: rs758389471
rs758389471
CDKN2A
0.882 0.080 9 21971160 missense variant C/G;T snv 4.7E-06; 4.7E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2003 2003
dbSNP: rs876658220
rs876658220
CDKN2A
1.000 0.040 9 21971147 frameshift variant T/- delins
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
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