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: rs10864376
rs10864376
CA6
2 0.925 0.080 1 8970313 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12138897
rs12138897
CA6
2 0.925 0.080 1 8971844 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs17032907
rs17032907
CA6
2 0.925 0.040 1 8950346 intron variant C/T snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs2274328
rs2274328
CA6
2 0.925 0.040 1 8949385 missense variant A/C snv 0.49 0.51 0.010 < 0.001 1 2015 2015
dbSNP: rs3737665
rs3737665
CA6
3 0.925 0.080 1 8970905 missense variant C/G;T snv 4.0E-06; 0.26 0.010 1.000 1 2019 2019