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: rs121918608
rs121918608
AHCY
3 1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05 0.800 1.000 4 2004 2010
dbSNP: rs755222515
rs755222515
AHCY
1 1.000 0.080 20 34294110 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 4 2004 2010
dbSNP: rs773162208
rs773162208
AHCY
2 0.925 0.240 20 34294119 missense variant T/C snv 4.0E-05 2.8E-05 0.700 1.000 4 2004 2010
dbSNP: rs121918607
rs121918607
AHCY
1 1.000 0.080 20 34292467 stop gained C/T snv 0.700 0
dbSNP: rs369428934
rs369428934
AHCY
2 0.925 0.240 20 34295469 missense variant G/A snv 2.8E-05 1.4E-05 0.700 0