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: rs72549407
rs72549407
FAM126A
1 1.000 0.160 7 22978444 missense variant A/C;G snv 2.0E-05 0.800 1.000 4 2006 2016
dbSNP: rs1562502139
rs1562502139
FAM126A
2 0.925 0.200 7 22983996 frameshift variant TT/- del 0.700 0
dbSNP: rs72549405
rs72549405
FAM126A
1 1.000 0.160 7 22991060 splice donor variant C/T snv 8.0E-06 0.700 0
dbSNP: rs72549406
rs72549406
FAM126A
1 1.000 0.160 7 22977340 splice donor variant C/A;G snv 0.700 0