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: rs121918299
rs121918299
TJP2
1 1.000 0.080 9 69216367 missense variant T/C snv 5.2E-04 0.800 1.000 1 2003 2003
dbSNP: rs28937579
rs28937579
BAAT
1 1.000 0.080 9 101371179 missense variant T/C snv 2.4E-05 1.7E-04 0.800 1.000 1 2003 2003
dbSNP: rs1278244243
rs1278244243
TJP2
2 0.925 0.120 9 69225409 splice donor variant T/C snv 1.2E-05 0.700 0