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: rs1554226131
rs1554226131
2 1.000 6 157148899 frameshift variant -/A delins 0.700 1.000 20 1984 2017
dbSNP: rs1554234424
rs1554234424
2 1.000 6 157196295 stop gained T/A snv 0.700 1.000 20 1984 2017
dbSNP: rs1554235792
rs1554235792
1 1.000 6 157201064 stop gained C/G snv 0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054
3 1.000 6 157201481 frameshift variant -/G delins 0.700 1.000 20 1984 2017
dbSNP: rs1554237658
rs1554237658
3 0.925 0.280 6 157206917 stop gained C/T snv 0.700 1.000 20 1984 2017
dbSNP: rs1554237848
rs1554237848
2 1.000 6 157207180 stop gained G/A snv 0.700 1.000 20 1984 2017
dbSNP: rs1554247637
rs1554247637
2 1.000 6 156778646 frameshift variant TGCGAGCGGCGGCC/G delins 0.700 1.000 20 1984 2017
dbSNP: rs1554256703
rs1554256703
3 0.925 0.280 6 156829302 stop gained C/T snv 0.700 1.000 20 1984 2017
dbSNP: rs201653711
rs201653711
2 0.925 0.280 6 156871638 stop gained G/T snv 1.2E-05 7.0E-06 0.700 1.000 20 1984 2017
dbSNP: rs758570139
rs758570139
2 1.000 6 157181016 stop gained C/G;T snv 2.8E-05 0.700 1.000 20 1984 2017