Gene: D2HGDH ×
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: rs121434360
rs121434360
D2HGDH
1 1.000 2 241767734 missense variant T/C snv 7.0E-06 0.800 1.000 3 2005 2006
dbSNP: rs121434361
rs121434361
D2HGDH
1 1.000 2 241742524 missense variant T/G snv 0.800 1.000 3 2005 2006
dbSNP: rs121434362
rs121434362
D2HGDH
3 0.882 0.120 2 241767718 missense variant A/G snv 0.800 1.000 3 2005 2006
dbSNP: rs267606759
rs267606759
D2HGDH
3 0.882 0.120 2 241751371 missense variant G/A;T snv 8.0E-06; 1.2E-05 0.800 0
dbSNP: rs1559364994
rs1559364994
D2HGDH
1 1.000 2 241744879 splice donor variant T/C snv 0.700 1.000 3 2006 2011
dbSNP: rs1559361049
rs1559361049
D2HGDH
1 1.000 2 241743772 frameshift variant T/- delins 0.700 1.000 1 2010 2010
dbSNP: rs145731647
rs145731647
D2HGDH
1 1.000 2 241741010 intron variant A/G;T snv 4.0E-06; 1.4E-02 0.700 0
dbSNP: rs587783517
rs587783517
D2HGDH
1 1.000 2 241743697 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs749330477
rs749330477
D2HGDH
1 1.000 2 241741064 frameshift variant -/TC delins 0.700 0
dbSNP: rs753528947
rs753528947
D2HGDH
1 1.000 2 241744707 splice acceptor variant A/G snv 2.4E-05 1.0E-04 0.700 0