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: rs4129767
rs4129767
6 17 78407903 intron variant G/A snv 0.46 0.800 1.000 4 2010 2019
dbSNP: rs12948394
rs12948394
3 17 78386710 intron variant C/T snv 0.47 0.700 1.000 2 2015 2018
dbSNP: rs4969178
rs4969178
3 1.000 0.040 17 78392121 intron variant A/G snv 0.63 0.700 1.000 2 2017 2019
dbSNP: rs12601079
rs12601079
1 17 78404248 intron variant G/A snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs4082919
rs4082919
4 17 78381401 intron variant T/G snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs4969183
rs4969183
5 17 78397291 intron variant A/G snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs4969186
rs4969186
3 1.000 0.040 17 78402323 intron variant G/C snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs8071884
rs8071884
4 17 78401977 intron variant C/A;G;T snv 0.700 1.000 1 2019 2019