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: rs1294950721
rs1294950721
JAG1
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
dbSNP: rs138065384
rs138065384
TTR
3 0.925 0.040 18 31593016 missense variant T/C snv 4.4E-05 1.9E-04 0.010 1.000 1 2011 2011