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: rs1800586
rs1800586
CDKN2A
0.851 0.240 9 21974861 5 prime UTR variant C/A;G;T snv 4.3E-05; 6.1E-05; 8.7E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 1999 2016
dbSNP: rs1800586
rs1800586
CDKN2A
0.851 0.240 9 21974861 5 prime UTR variant C/A;G;T snv 4.3E-05; 6.1E-05; 8.7E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 8 1999 2010
dbSNP: rs1800586
rs1800586
CDKN2A
0.851 0.240 9 21974861 5 prime UTR variant C/A;G;T snv 4.3E-05; 6.1E-05; 8.7E-06
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.700 1.000 3 1999 2016
dbSNP: rs1800586
rs1800586
CDKN2A
0.851 0.240 9 21974861 5 prime UTR variant C/A;G;T snv 4.3E-05; 6.1E-05; 8.7E-06
CUI: C1835042
Disease: Melanoma astrocytoma syndrome
Melanoma astrocytoma syndrome 		0.700 0
dbSNP: rs1800586
rs1800586
CDKN2A
0.851 0.240 9 21974861 5 prime UTR variant C/A;G;T snv 4.3E-05; 6.1E-05; 8.7E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 0