Source: ALL
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: rs1568986066
rs1568986066
MN1
1 1.000 0.040 22 27799759 frameshift variant C/- delins 0.700 0
dbSNP: rs1568986076
rs1568986076
MN1
1 1.000 0.040 22 27799768 frameshift variant TAATG/- del 0.700 0
dbSNP: rs2305089
rs2305089
TBXT
7 0.827 0.120 6 166165782 missense variant C/T snv 0.48 0.43 0.050 1.000 5 2012 2017