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: rs121908407
rs121908407
ANKH
1 1.000 0.040 5 14769145 missense variant A/G snv 0.810 1.000 4 2002 2009
dbSNP: rs121908409
rs121908409
ANKH
1 1.000 0.040 5 14871434 missense variant G/A snv 0.800 1.000 3 2002 2003
dbSNP: rs121908410
rs121908410
ANKH
1 1.000 0.040 5 14871435 missense variant G/T snv 0.800 1.000 3 2002 2003
dbSNP: rs28939080
rs28939080
ANKH ; OTULIN ; LOC100130744
2 0.925 0.080 5 14713644 missense variant C/T snv 0.700 0