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: rs28934584
rs28934584
1 1.000 0.120 16 20348994 missense variant C/A;G;T snv 5.3E-06 0.800 1.000 6 2002 2017
dbSNP: rs1555487621
rs1555487621
2 0.925 0.240 16 20348943 missense variant A/C snv 0.700 1.000 6 2002 2017
dbSNP: rs1555487318
rs1555487318
2 0.925 0.240 16 20348249 missense variant T/G snv 0.700 0
dbSNP: rs878855325
rs878855325
1 1.000 0.120 16 20349012 protein altering variant CTTCGGGGCAGA/AGGAGGCGG delins 0.700 0
dbSNP: rs886043751
rs886043751
2 0.925 0.240 16 20348557 stop gained G/C;T snv 0.700 0