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: rs121918193
rs121918193
PFKM
1 1.000 0.160 12 48130393 missense variant G/A;C;T snv 2.0E-05 0.800 1.000 5 1994 2013
dbSNP: rs121918194
rs121918194
PFKM
1 1.000 0.160 12 48142041 missense variant A/C snv 1.6E-05 0.800 1.000 5 1994 2013
dbSNP: rs121918196
rs121918196
PFKM
1 1.000 0.160 12 48145096 missense variant G/T snv 0.800 1.000 5 1994 2013
dbSNP: rs202143236
rs202143236
PFKM ; MIR6505
2 1.000 0.160 12 48131394 splice donor variant G/A snv 1.3E-04; 4.0E-06 6.3E-05 0.700 1.000 3 1993 1995
dbSNP: rs746348793
rs746348793
PFKM
1 1.000 0.160 12 48139913 splice donor variant G/A snv 8.0E-06 0.700 1.000 2 1994 1995
dbSNP: rs767095759
rs767095759
PFKM
2 1.000 0.160 12 48145039 frameshift variant C/- delins 9.5E-05 4.9E-05 0.700 1.000 2 1994 1996
dbSNP: rs1169383137
rs1169383137
PFKM
1 1.000 0.160 12 48135373 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs121918195
rs121918195
PFKM ; MIR6505
1 1.000 0.160 12 48132913 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs767265360
rs767265360
PFKM
1 1.000 0.160 12 48134264 missense variant G/A snv 4.0E-06 0.700 0