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: rs8017377
rs8017377
3 14 24414681 missense variant G/A snv 0.37 0.34 0.800 1.000 5 2010 2019
dbSNP: rs11621792
rs11621792
2 14 24402720 intron variant C/T snv 0.32 0.700 1.000 2 2015 2018
dbSNP: rs6573778
rs6573778
2 14 24403003 intron variant T/C;G snv 0.700 1.000 2 2019 2019
dbSNP: rs2332328
rs2332328
2 14 24413852 intron variant C/T snv 0.34 0.700 1.000 1 2018 2018