Source: ALL

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: rs104894099
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 12 1994 2009
dbSNP: rs104894099
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.700 1.000 10 1998 2016
dbSNP: rs104894099
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 9 1998 2016
dbSNP: rs104894099
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1998 2011
dbSNP: rs104894099
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2003 2010