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: rs202203360
rs202203360
PROKR2
2 0.925 0.160 20 5314033 missense variant A/G snv 1.2E-04 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs369831329
rs369831329
PROKR2
2 0.925 0.160 20 5302374 missense variant A/T snv 8.0E-06 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
dbSNP: rs137852515
rs137852515
ANOS1
2 0.925 0.160 X 8536852 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs2229013
rs2229013
ANOS1
1 1.000 0.160 X 8535755 missense variant C/A;T snv 8.7E-04 0.010 1.000 1 2013 2013