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: rs140540096
rs140540096
1 1.000 14 77327990 missense variant G/A snv 5.0E-04 5.0E-04 0.700 0
dbSNP: rs199552988
rs199552988
1 1.000 14 77329782 missense variant C/T snv 7.2E-05 4.9E-05 0.700 0
dbSNP: rs776678047
rs776678047
1 1.000 14 77326826 non coding transcript exon variant G/A;T snv 1.3E-05 0.700 0
dbSNP: rs11555096
rs11555096
FAH
2 1.000 15 80180184 missense variant C/A;T snv 1.7E-02 0.010 1.000 1 2018 2018