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: rs730882028
rs730882028
1.000 0.120 17 7670709 missense variant C/A;G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0
dbSNP: rs730882028
rs730882028
1.000 0.120 17 7670709 missense variant C/A;G;T snv 4.0E-06
CUI: C0001618
Disease: Tumors of Adrenal Cortex
Tumors of Adrenal Cortex
0.010 1.000 1 2018 2018
dbSNP: rs730882028
rs730882028
1.000 0.120 17 7670709 missense variant C/A;G;T snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.010 1.000 1 2018 2018