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: rs121907987
rs121907987
PHGDH
1 1.000 0.240 1 119743906 missense variant G/A snv 1.5E-04 5.6E-05 0.800 1.000 3 2000 2009
dbSNP: rs121907988
rs121907988
PHGDH
1 1.000 0.240 1 119742870 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 2 2000 2009
dbSNP: rs267606947
rs267606947
PHGDH
2 0.925 0.320 1 119735432 missense variant G/A snv 0.800 1.000 2 2000 2009
dbSNP: rs267606948
rs267606948
PHGDH
2 0.925 0.320 1 119741817 missense variant G/A;C snv 1.2E-05 0.800 1.000 2 2000 2009
dbSNP: rs201553627
rs201553627
PHGDH
1 1.000 0.240 1 119741805 missense variant G/A;T snv 8.0E-06; 4.0E-05 0.700 1.000 2 2000 2009
dbSNP: rs267606949
rs267606949
PHGDH ; LOC105378936
1 1.000 0.240 1 119726897 missense variant C/A;G;T snv 4.0E-06; 3.6E-05; 2.0E-05 0.700 1.000 2 2000 2009
dbSNP: rs730882181
rs730882181
PHGDH
1 1.000 0.240 1 119735363 frameshift variant G/- delins 7.0E-06 0.700 0
dbSNP: rs769256568
rs769256568
PHGDH
2 0.925 0.320 1 119740470 stop gained C/T snv 1.7E-05 1.4E-05 0.700 0
dbSNP: rs775936961
rs775936961
PHGDH
1 1.000 0.240 1 119737118 missense variant C/T snv 1.2E-05 0.700 0