Source: BEFREE

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: rs201698323
rs201698323
0.851 0.120 3 38742448 missense variant A/G;T snv 5.9E-04
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 1.000 1 2016 2016
dbSNP: rs201698323
rs201698323
0.851 0.120 3 38742448 missense variant A/G;T snv 5.9E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2016 2016
dbSNP: rs201698323
rs201698323
0.851 0.120 3 38742448 missense variant A/G;T snv 5.9E-04
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2016 2016
dbSNP: rs201698323
rs201698323
0.851 0.120 3 38742448 missense variant A/G;T snv 5.9E-04
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia
0.010 1.000 1 2016 2016