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: rs199422114
rs199422114
TBXAS1
2 0.925 0.120 7 140017766 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs199422116
rs199422116
TBXAS1
2 0.925 0.120 7 140017747 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs199422117
rs199422117
TBXAS1
2 0.925 0.120 7 140015731 missense variant G/A snv 8.3E-04 1.7E-04 0.700 0