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: rs587777863
rs587777863
PROK2 ; LOC105377156
2 0.925 0.160 3 71784983 missense variant C/G snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs753838219
rs753838219
FGFR1
1 1.000 0.160 8 38419721 missense variant G/A snv 3.6E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs759233744
rs759233744
FGFR1
1 1.000 0.160 8 38421899 missense variant G/A snv 1.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs761470587
rs761470587
HESX1
1 1.000 0.160 3 57199795 missense variant G/A snv 6.0E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs78861628
rs78861628
PROKR2
4 0.851 0.160 20 5302393 missense variant G/A snv 3.9E-03 1.4E-02 0.010 1.000 1 2008 2008