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: rs587777770
rs587777770
PHGDH ; LOC105378936
1 1.000 0.240 1 119727010 missense variant G/A snv 4.0E-06 0.800 1.000 1 2014 2014
dbSNP: rs267606948
rs267606948
PHGDH
2 0.925 0.320 1 119741817 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2009 2009
dbSNP: rs587777483
rs587777483
PHGDH ; LOC105378936
1 1.000 0.240 1 119727080 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs267606947
rs267606947
PHGDH
2 0.925 0.320 1 119735432 missense variant G/A snv 0.700 0
dbSNP: rs587777774
rs587777774
PHGDH
1 1.000 0.240 1 119737114 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs587777775
rs587777775
PHGDH
1 1.000 0.240 1 119737177 missense variant G/C snv 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