Source: BEFREE ×
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: rs752941297
rs752941297
SPINK5
1 0.925 0.080 5 148097875 synonymous variant C/T snv 2.0E-05 4.2E-05 0.720 1.000 2 2012 2015
dbSNP: rs121908387
rs121908387
SPINK5
1 1.000 0.080 5 148120063 stop gained C/T snv 0.710 1.000 1 2005 2005
dbSNP: rs2303067
rs2303067
SPINK5
5 0.851 0.160 5 148101392 missense variant A/G snv 0.52 0.44 0.010 1.000 1 2009 2009
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs777436361
rs777436361
SPINK5
1 1.000 0.080 5 148100472 stop gained C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs924297783
rs924297783
SPINK5
1 1.000 0.080 5 148097984 stop gained C/T snv 0.010 1.000 1 2011 2011