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: rs1555906707
rs1555906707
1 X 11765481 missense variant T/C snv 0.700 0
dbSNP: rs1555906768
rs1555906768
1 X 11765594 stop gained C/T snv 0.700 0
dbSNP: rs1555906781
rs1555906781
1 X 11765622 frameshift variant TG/- delins 0.700 0
dbSNP: rs1555907620
rs1555907620
1 X 11772246 stop gained C/T snv 0.700 0
dbSNP: rs1555907623
rs1555907623
1 X 11772247 frameshift variant ATTGTTTG/- delins 0.700 0
dbSNP: rs1555907626
rs1555907626
1 X 11772256 splice donor variant G/T snv 0.700 0
dbSNP: rs1555907653
rs1555907653
1 X 11772674 frameshift variant -/C delins 0.700 0
dbSNP: rs1555907864
rs1555907864
1 X 11775029 frameshift variant GC/A delins 0.700 0