Source: CLINVAR

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: rs878853647
rs878853647
CDKN2A
0.882 0.120 9 21971099 missense variant C/G;T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 0 1994 2009
dbSNP: rs878853647
rs878853647
CDKN2A
0.882 0.120 9 21971099 missense variant C/G;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.710 1.000 8 1994 2013
dbSNP: rs878853647
rs878853647
CDKN2A
0.882 0.120 9 21971099 missense variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0