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: rs1114167300
rs1114167300
GRM7
6 0.925 0.040 3 7578878 missense variant C/T snv 0.700 0
dbSNP: rs1114167301
rs1114167301
GRM7
6 0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
6 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
15 0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs771379232
rs771379232
MTHFS ; ST20-MTHFS
15 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
dbSNP: rs886039904
rs886039904
GJC2
6 0.851 0.200 1 228157836 frameshift variant G/- del 0.700 0