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: rs104893767
rs104893767
PROK2 ; LOC105377156
1 1.000 3 71784959 missense variant C/G;T snv 1.4E-04 0.800 1.000 4 2006 2014
dbSNP: rs121434272
rs121434272
PROK2
1 1.000 3 71781472 missense variant G/A;C snv 7.2E-05; 8.0E-06 0.800 1.000 4 2006 2014
dbSNP: rs587777863
rs587777863
PROK2 ; LOC105377156
2 0.925 0.160 3 71784983 missense variant C/G snv 7.0E-06 0.800 1.000 4 2006 2014
dbSNP: rs587777864
rs587777864
PROK2
1 1.000 3 71781588 missense variant C/T snv 7.0E-06 0.800 1.000 4 2006 2014
dbSNP: rs1388290870
rs1388290870
PROK2
1 1.000 3 71781539 missense variant G/C snv 8.0E-06 7.0E-06 0.700 1.000 4 2006 2014
dbSNP: rs1427017264
rs1427017264
PROK2
1 1.000 3 71781552 missense variant C/T snv 4.0E-06 0.700 1.000 4 2006 2014
dbSNP: rs554675432
rs554675432
PROK2
1 1.000 3 71781526 frameshift variant T/- del 1.2E-04 1.3E-04 0.700 0