Source: CLINVAR

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: rs515726184
rs515726184
RRM2B
1.000 0.080 8 102225984 inframe deletion CTC/- del 8.0E-06 7.0E-06
CUI: C0264162
Disease: Camptocormia
Camptocormia 		0.700 0
dbSNP: rs61752783
rs61752783
POLG ; MIR6766
0.882 0.200 15 89326947 missense variant C/A;G snv 4.8E-03; 2.0E-05
CUI: C0264162
Disease: Camptocormia
Camptocormia 		0.700 0