Gene: RNF213 ×
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: rs6565681
rs6565681
RNF213 ; RNF213-AS1
2 0.925 0.080 17 80374694 3 prime UTR variant A/G snv 0.76 0.83 0.800 1.000 1 2011 2011
dbSNP: rs9916351
rs9916351
RNF213
3 0.925 0.080 17 80265733 intron variant T/C snv 0.53 0.710 1.000 1 2018 2018
dbSNP: rs10782008
rs10782008
RNF213
2 0.925 0.080 17 80332071 missense variant G/A snv 0.55 0.56 0.700 1.000 1 2018 2018
dbSNP: rs11869363
rs11869363
RNF213
2 0.925 0.080 17 80292960 intron variant A/G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs9907978
rs9907978
RNF213
2 0.925 0.080 17 80327580 intron variant A/G snv 0.65 0.700 1.000 1 2018 2018
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 0.100 0.925 40 2011 2020
dbSNP: rs148731719
rs148731719
RNF213 ; RNF213-AS1
3 0.882 0.080 17 80376310 missense variant G/A snv 1.0E-02 7.9E-03 0.040 0.750 4 2012 2019
dbSNP: rs138130613
rs138130613
RNF213 ; RNF213-AS1
1 1.000 0.080 17 80389234 missense variant C/T snv 3.2E-04 1.2E-04 0.010 1.000 1 2017 2017
dbSNP: rs371441113
rs371441113
RNF213 ; RNF213-AS1
1 1.000 0.080 17 80386819 missense variant G/A;C snv 4.0E-06; 2.4E-04 0.010 1.000 1 2017 2017