Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs112735431
rs112735431
RNF213 ; RNF213-AS1
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs397514563
rs397514563
RNF213 ; RNF213-AS1
1 1.000 0.080 17 80368025 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs797045187
rs797045187
RNF213 ; RNF213-AS1
1 1.000 0.080 17 80369784 inframe deletion AAA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs148731719
rs148731719
RNF213 ; RNF213-AS1
3 0.882 0.080 17 80376310 missense variant G/A snv 1.0E-02 7.9E-03 0.700 0
dbSNP: rs1555675538
rs1555675538
RNF213 ; RNF213-AS1
1 1.000 0.080 17 80368028 missense variant C/A snv 0.700 0
dbSNP: rs1568149971
rs1568149971
RNF213 ; RNF213-AS1
1 1.000 0.080 17 80372536 missense variant A/G snv 0.700 0