Source: UNIPROT

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: rs104894094
rs104894094
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
0.800 1.000 12 1994 2009
dbSNP: rs104894094
rs104894094
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME
0.800 1.000 1 1994 2016