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: rs1554639173
rs1554639173
3 1.000 9 14120609 frameshift variant TTCGAGTTGAGATG/- delins 0.700 0
dbSNP: rs1554649366
rs1554649366
3 1.000 9 14150191 frameshift variant -/CA delins 0.700 0
dbSNP: rs1554709654
rs1554709654
3 1.000 9 14307156 missense variant A/G snv 0.700 0
dbSNP: rs1554709662
rs1554709662
3 1.000 9 14307175 missense variant T/C snv 0.700 0
dbSNP: rs1554709683
rs1554709683
3 1.000 9 14307210 missense variant T/G snv 0.700 0
dbSNP: rs1554709792
rs1554709792
3 1.000 9 14307442 stop gained G/A snv 0.700 0
dbSNP: rs764333096
rs764333096
3 1.000 9 14307286 stop gained G/A;T snv 2.0E-05 0.700 0