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: rs1238248024
rs1238248024
HESX1
2 0.925 0.080 3 57198953 splice acceptor variant C/A;G snv 0.700 1.000 3 1998 2009
dbSNP: rs104893742
rs104893742
HESX1
3 0.882 0.160 3 57198405 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0