Source: CURATED

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: rs45580035
rs45580035
BRCA2
0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs80358683
rs80358683
BRCA2
0.851 0.120 13 32338880 stop gained C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs80359204
rs80359204
BRCA2
1.000 0.040 13 32394741 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0